Causes of Seizures

Simple Causes: There are some simple conditions that can cause seizures or seizure-like movements:

• Febrile convulsions. These are fever-related seizures, usually in children, and usually a full body seizure (although sometimes a focal seizure).
• Muscle cramps. Over-exertion of a muscle can lead to a muscle spasm or cramp, that’s normal, but there are also some abnormal causes of muscle cramps (e.g. undiagnosed diabetes)
• Hypoglycemic attack (diabetic hypo, insulin reaction, etc.)
• Sleep-related spasms (sleep myoclonus). Occasional twitches, muscle jerks, or spasms occurring at the onset of sleep. These are usually normal.

Brain Causes of Generalized Seizures: Although epilepsy is well-known for causing generalized (tonic-clonic) seizures, there are a variety of causes of fits and full seizures. Many of these causes are very serious:

• Epilepsy
• Idiopathic epilepsy
• Stroke
• Transient Ischemic Attack
• Cerebral Palsy
• Brain injury (head injury)
• Brain infection (encephalitis)
• Herpes simplex encephalitis
• Meningitis
• Brain aneurysm
• Brain tumor
• Temporal lobe tumor
• Brain abscess
• High Intracranial Pressure (High ICP)
• Neurofibromatosis (brain tumors)
• Sarcoidosis (brain tumors)
• Congenital defect
• Encephalopathy
• Hypertensive encephalopathy (hypertension)
• Hepatic encephalopathy (liver disease)
• Hypoxic encephalopathy
• Metabolic encephalopathy

Other Major Causes of Seizures: Problems in other organs of the body can result in effects on the brain that are severe enough to cause seizures:

• End-stage renal failure
• Sarcoidosis
• Multiple Sclerosis
• Reye’s Syndrome
• Sturge-Weber Syndrome
• Eclampsia (pregnancy-related hypertension)
• Hyponatremia (low sodium levels)
• Hypoparathyroidism
• Porphyria
• Psychogenic seizures

Substance-Related Causes: Various drugs, medications and substances can affect the brain, causing generalized seizures:

• Alcohol Withdrawal (Delirium Tremens)
• Barbiturate withdrawal
• Cocaine abuse
• Lead poisoning
• Arsenic poisoning
• Drug side-effects
• Drug interactions
• Contrast agent side-effects (diagnostic tests)
• Vaccination side-effect. Modern vaccines are much less likely to cause a reaction.

Absence Seizures: Mental seizures where a child may “stare into space” or become non-responsive, are called absence seizures. They are often mistaken for inattention, such as inattentive-type ADHD. Causes may include:

• Epilepsy (certain types)
• Absence status

Other Notable Syndromes: There are a few disorders that don’t really cause “seizures” as such, but can cause some effects or motor disorders that are similar or related.

• Restless legs syndrome
• Parkinson’s Disease
• Essential Tremor
• Motor Disorders (generally)
• Narcolepsy. Causes sudden “sleep attacks” that can seem similar to mental seizures.
• Cataplexy. This disorder involves sudden attacks of lack of muscle tone.
• Sleep paralysis. This causes brief moments of total paralysis before sleep and on waking.

Similar Symptoms: See also the causes of symptoms similar to seizures, such as:

• Convulsions
• Fits
• Tics
• Twitches
• Muscle spasms
• Fainting
• Syncope
• Chorea
• Clonus
• Myoclonus
• Spasticity
• Involuntary movements

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Back to: « Seizures

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When are seizures not epilepsy?

While any seizure is cause for concern, having a seizure does not by itself mean a person has epilepsy. First seizures, febrile seizures, nonepileptic events, and eclampsia (a life-threatening condition that can occur in pregnant women) are examples of conditions involving seizures that may not be associated with epilepsy. Regardless of the type of seizure, it’s important to inform your doctor when one occurs.

Source: NINDS (NIH)¹

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Other nonepileptic events may be caused by narcolepsy (sudden attacks of sleep), Tourette syndrome (repetitive involuntary movements called tics), cardiac arrhythmia (irregular heart beat), and other medical conditions with symptoms that resemble seizures. Because symptoms of these disorders can look very much like epileptic seizures, they are often mistaken for epilepsy.

Source: NINDS (NIH)²

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Older Adults

Epidemiological studies demonstrate that the elderly are at a substantially higher risk for the development of the epilepsies. In addition to stroke (hemorrhagic and ischemic), seizures in the elderly may be associated with brain tumors, TBI, and Alzheimer’s disease.

Source: NINDS (NIH)³

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Non-Epileptic Seizures: An estimated 5 to 20 percent of people diagnosed with epilepsy actually have non-epileptic seizures (NES), which outwardly resemble epileptic seizures, but are not associated with seizure-like electrical discharge in the brain.

Source: NINDS (NIH)⁴

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CDKL5 Disorder: CDKL5 is a loss of function disorder that causes early-onset, refractory epilepsy.

Source: RDCRN (NCATS/NIH)⁵

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Angelman syndrome: By around two years of age … Children with Angelman syndrome may also start to have seizures (fits) around this age.

Source: NHS Choices UK⁶

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Reflex anoxic seizures: Reflex anoxic seizures are involuntary, aren't dangerous and don't cause brain damage or death. They're not a sign of a difficult child or poor parenting. They're not epileptic seizures.

Source: NHS Choices UK⁷

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Anemia: Iron deficiency anaemia

In some cases, blue breath-holding spells and reflex anoxic seizures may be linked to iron deficiency anaemia.

This is where a lack of iron in the body leads to a reduction in the number of red blood cells, causing symptoms such as tiredness, shortness of breath, heart palpitations and a pale complexion.

Source: NHS Choices UK⁸

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Reflex anoxic seizures (RAS): The child will often open their mouth as if they're going to cry, but make no sound before turning pale grey and losing consciousness.

They'll either become limp - or, more often, stiff - with their eyes rolling upwards and their fingers clawed. Their body may also jerk a few times.

The seizure usually lasts less than a minute. Afterwards, the child will regain consciousness, but may appear sleepy and confused for a few hours.

Source: NHS Choices UK⁹

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Long QT syndrome: Those who do have symptoms usually experience:

• seizures, which sometimes happen instead of a blackout when the brain is starved of oxygen

Source: NHS Choices UK¹⁰

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Neurofibromatosis type 1: Around 7% of children with NF1 develop epilepsy, where a person has repeated seizures or fits. This tends to be a mild form of epilepsy that's controlled easily with medication.

Source: NHS Choices UK¹¹

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Infantile spasms: Some young children experience a more serious condition, known as infantile spasms, where they have lots of seizures over a short space of time, and brain activity is abnormal all the time. These usually develop during the first year of life.

Source: NHS Choices UK¹²

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Some causes may include:¹³ Causes of Seizures:

• 10q22.3q23.3 Microdeletion Syndrome
• 11q22.2q22.3 Microdeletion Syndrome
• 14q12 Microdeletion Syndrome
• 15q11q13 Microduplication Syndrome
• 15q13.3 Microdeletion Syndrome
• 15q14 Microdeletion Syndrome
• 15q24 Microdeletion Syndrome
• 15q Overgrowth Syndrome
• 16p11.2p12.2 Microduplication Syndrome
• 16q24.3 Microdeletion Syndrome
• 17- Beta-Hydroxysteroid Dehydrogenase X Deficiency
• 17q11.2 Microduplication Syndrome
• 17q12 Microdeletion Syndrome
• 17q12 Microduplication Syndrome
• 19p13.12 Microdeletion Syndrome
• 1p36 Deletion Syndrome
• 1p36 Microdeletion Syndrome
• 1q21.1 Microdeletion Syndrome
• 1q21.1 Microduplication Syndrome
• 1q41q42 Microdeletion Syndrome
• 20p12.3 Microdeletion Syndrome
• 20q13.33 Microdeletion Syndrome
• 22q11.2 Deletion Syndrome
• 22q11.2 Microduplication Syndrome
• 2,4-Dienoyl-CoA Reductase Deficiency
• 2- Methylbutyryl-COA Dehydrogenase Deficiency
• 2p21 Microdeletion Syndrome
• 2q23.1 Microdeletion Syndrome
• 2q24 Microdeletion Syndrome
• 2q31.1 Microdeletion Syndrome
• 2q33.1 Deletion Syndrome
• 2q37 Microdeletion Syndrome
• 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
• 3-Hydroxyisobutyric Aciduria
• 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
• 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
• 3-Methylglutaconic Aciduria Type 1
• 3-Methylglutaconic Aciduria Type 4
• 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia
• 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
• 3q29 Microduplication
• 47,XYY Syndrome
• 48,XXXY Syndrome
• 48,XXYY Syndrome
• 49,XXXXY Syndrome
• 4q21 Microdeletion Syndrome
• 5q14.3 Microdeletion Syndrome
• 5q35 Microduplication Syndrome
• 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
• 6q25 Microdeletion Syndrome
• 6q Terminal Deletion Syndrome
• 7q11.23 Microduplication Syndrome
• 8p11.2 Deletion Syndrome
• 8p23.1 Microdeletion Syndrome
• 8p Inverted Duplication/Deletion Syndrome
• Abeta Amyloidosis, Dutch Type
• Abeta Amyloidosis, Italian Type
• Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
• Acrocallosal Syndrome
• Acrocardiofacial Syndrome
• Acrofrontofacionasal Dysostosis 1
• Acromegaloid Facial Appearance Syndrome
• Acromelic Frontonasal Dysostosis
• Acute Adrenal Insufficiency
• Acute Intermittent Porphyria
• ACYL-CoA Dehydrogenase, Medium-Chain, Deficiency Of
• ACYL-COA Dehydrogenase, Short-Chain, Deficiency Of
• Adams-Oliver Syndrome
• Adams-Oliver Syndrome 2
• Adams-Oliver Syndrome 5
• Addison Disease
• Adenylosuccinase Deficiency
• Adenylosuccinate Lyase Deficiency
• Adiposis Dolorosa
• Adrenoleukodystrophy
• Adrenoleukodystrophy, Autosomal Neonatal Form
• Adrenomyodystrophy
• Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia
• Agenesis Of The Corpus Callosum With Peripheral Neuropathy
• Aicardi-Goutieres Syndrome
• Aicardi-Goutieres Syndrome 1
• Aicardi-Goutieres Syndrome 7
• AICA-Ribosiduria
• Aicar Transformylase/IMP Cyclohydrolase Deficiency
• Alexander Disease
• ALG1-CDG
• ALG2-CDG
• ALG3-CDG
• ALG9-CDG
• Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
• Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
• Alopecia-Intellectual Disability Syndrome
• Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropichypogonadism
• Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
• Alpha-N-Acetylgalactosaminidase Deficiency
• Alpha-N-Acetylgalactosaminidase Deficiency Type 1
• Alpha-N-Acetylgalactosaminidase Deficiency Type 3
• Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
• Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
• Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
• Alstrom Syndrome
• Alzheimer Disease 3
• Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid Andprion Pathology
• Amelocerebrohypohidrotic Syndrome
• Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome
• Aminoacylase 1 Deficiency
• Amyloidosis, Hereditary, Transthyretin-Related
• Angelman Syndrome
• Angelman Syndrome (Type 1)
• Angelman Syndrome (Type 2)
• Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
• Angioosteohypertrophic Syndrome
• Argininemia
• Argininosuccinic Aciduria
• Armfield X-Linked Mental Retardation Syndrome
• Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
• Arthrogryposis, Distal, Type 2A
• Arthrogryposis, Mental Retardation, And Seizures
• Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
• Arts Syndrome
• Asparagine Synthetase Deficiency
• Aspartylglucosaminuria
• Ataxia-Telangiectasia
• Ataxia With Myoclonic Epilepsy And Presenile Dementia
• Atkin-Flaitz Syndrome
• Atypical Juvenile Parkinsonism
• Atypical Rett Syndrome
• Atypical Teratoid Rhabdoid Tumor
• Autism
• Autism, Susceptibility To, 3
• Autism, Susceptibility To, 8
• Autism, Susceptibility To, X-Linked 1
• Autism, Susceptibility To, X-Linked 2
• Autism, Susceptibility To, X-Linked 3
• Autoimmune Polyendocrine Syndrome, Type II
• Autoinflammation, Lipodystrophy, And Dermatosis Syndrome
• Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
• Autosomal Dominant Hyperinsulinism Due To SUR1 Deficiency
• Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
• Autosomal Recessive Cutis Laxa Type 2
• Autosomal Recessive Spastic Paraplegia Type 11
• Ayme-Gripp Syndrome
• Baller-Gerold Syndrome
• Band Heterotopia Of Brain
• Band-Like Calcification With Simplified Gyration And Polymicrogyria
• Bangstad Syndrome
• Bannayan-Riley-Ruvalcaba Syndrome
• Baraitser-Winter Syndrome 1
• Baraitser-Winter Syndrome 2
• Bartter Syndrome, Antenatal, Type 1
• Bartter Syndrome, Antenatal, Type 2
• Basal Ganglia Calcification, Idiopathic, 6
• Basal Ganglia Calcification, Idiopathic, Childhood-Onset
• Basel-Vanagaite-Smirin-Yosef Syndrome
• Behcet Disease
• Benign Familial Infantile Epilepsy
• Benign Familial Neonatal Epilepsy
• Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
• Beta-Mannosidosis
• Bilateral Striopallidodentate Calcinosis
• Biotinidase Deficiencymultiple Carboxylase Deficiency, Late-Onset
• Bohring-Opitz Syndrome
• Borjeson-Forssman-Lehmann Syndrome
• Bowen-Conradi Syndrome
• Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
• Brachydactyly, Type A2, With Microcephaly
• Brain Small Vessel Disease With Or Without Ocular Anomalies
• Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency
• Branchiooculofacial Syndrome
• Branchioskeletogenital Syndrome
• Brooks-Wisniewski-Brown Syndrome
• Cadasil
• Camos Syndrome
• Camptodactyly Syndrome, Guadalajara Type 1
• Camptodactyly Syndrome, Guadalajara, Type I
• Canavan Disease
• Carbamoyl-Phosphate Synthetase 1 Deficiency
• Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
• Cardiofaciocutaneous Syndrome 1
• Cardiofaciocutaneous Syndrome 3
• Carnitine-Acylcarnitine Translocase Deficiency
• Carnitine Palmitoyl Transferase 1A Deficiency
• Carnitine Palmitoyltransferase I Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Carnitine Palmitoyltransferase II Deficiency, Infantile
• Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
• Carnitine Palmitoyl Transferase II Deficiency, Neonatal Form
• Carnitine Palmitoyl Transferase II Deficiency, Severe Infantile Form
• Cataract-Nephropathy-Encephalopathy Syndrome
• Catel-Manzke Syndrome
• Cednik Syndrome
• Celiac Disease
• Central Bilateral Macrogyria
• Central Diabetes Insipidus
• Centronuclear Myopathy
• Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome1
• Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
• Cerebelloparenchymal Disorder II
• Cerebellotrigeminal Dermal Dysplasia
• Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarctsand Leukoencephalopathy
• Cerebral Cavernous Malformations
• Cerebral Cavernous Malformations 2
• Cerebral Cavernous Malformations 3
• Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
• Cerebral Creatine Deficiency Syndrome 1
• Cerebral Palsy, Spastic, Symmetric, Autosomal Recessive
• Cerebrooculofacioskeletal Syndrome 1
• Cerebrorenodigital Syndrome
• Cerebroretinal Microangiopathy With Calcifications And Cysts
• Cerebrotendinous Xanthomatosis
• Ceroid Lipofuscinosis, Neuronal, 1
• Ceroid Lipofuscinosis, Neuronal, 13
• Ceroid Lipofuscinosis, Neuronal, 2
• Ceroid Lipofuscinosis, Neuronal, 3
• Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive
• Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant
• Ceroid Lipofuscinosis, Neuronal, 5
• Ceroid Lipofuscinosis, Neuronal, 6
• Ceroid Lipofuscinosis, Neuronal, 8
• Ceroid Lipofuscinosis, Neuronal, 9
• Chediak-Higashi Syndrome
• Chediak-Higashi Syndrome
• Choreoacanthocytosis
• Choreoathetosis, Familial Inverted
• Choroid Plexus Calcification And Mental Retardation
• Chromosome 10q26 Deletion Syndrome
• Chromosome 11p13 Deletion Syndrome, Distal
• Chromosome 14q11-Q22 Deletion Syndrome
• Chromosome 15q11.2 Deletion Syndrome
• Chromosome 15q11-Q13 Duplication Syndrome
• Chromosome 15q13.3 Microdeletion Syndrome
• Chromosome 16p12.1 Deletion Syndrome, 520-Kbfragile Site 16p12, Included
• Chromosome 16p13.2 Deletion Syndrome
• Chromosome 16p13.3 Deletion Syndrome
• Chromosome 17q11.2 Deletion Syndrome, 1.4-MB
• Chromosome 17q12 Duplication Syndrome
• Chromosome 18q Deletion Syndrome
• Chromosome 19p13.13 Deletion Syndrome
• Chromosome 1p32-P31 Deletion Syndrome
• Chromosome 1p36 Deletion Syndrome
• Chromosome 1q21.1 Duplication Syndrome
• Chromosome 1q41-Q42 Deletion Syndrome
• Chromosome 2q37 Deletion Syndrome
• Chromosome 3pter-P25 Deletion Syndrome
• Chromosome 5p13 Duplication Syndrome
• Chromosome 5q12 Deletion Syndrome
• Chromosome 6pter-P24 Deletion Syndrome
• Chronic Mucocutaneous Candidiasis
• Chudley-Mccullough Syndrome
• Citrullinemia, Classic
• CK Syndrome
• Clark-Baraitser Syndrome
• Classic Homocystinuria
• Classic Phenylketonuria
• Cleft Palate, Isolated
• Coach Syndrome
• Cochleosaccular Degeneration-Cataract Syndrome
• Cockayne Syndrome
• Cockayne Syndrome A
• Cockayne Syndrome, Type B
• Codas Syndrome
• Coenzyme Q10 Deficiency, Primary, 1
• Coenzyme Q10 Deficiency, Primary, 4
• Coenzyme Q10 Deficiency, Primary, 5
• Coenzyme Q10 Deficiency, Primary, 6
• Coenzyme Q10 Deficiency, Primary, 7
• Coffin-Lowry Syndrome
• Coffin-Siris Syndrome
• COFS Syndrome
• Cohen Syndrome
• Cold-Induced Sweating Syndrome 1
• Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mentalretardation, And Ear Anomalies Syndrome
• Combined D-2- And L-2-Hydroxyglutaric Aciduria
• Combined Oxidative Phosphorylation Deficiency 1
• Combined Oxidative Phosphorylation Deficiency 10
• Combined Oxidative Phosphorylation Deficiency 12
• Combined Oxidative Phosphorylation Deficiency 14
• Combined Oxidative Phosphorylation Deficiency 15
• Combined Oxidative Phosphorylation Deficiency 20
• Combined Oxidative Phosphorylation Deficiency 22
• Combined Oxidative Phosphorylation Deficiency 23
• Combined Oxidative Phosphorylation Deficiency 24
• Combined Oxidative Phosphorylation Deficiency 29
• Combined Oxidative Phosphorylation Deficiency 3
• Combined Oxidative Phosphorylation Deficiency 5
• Combined Oxidative Phosphorylation Deficiency 6
• Combined Pituitary Hormone Deficiencies, Genetic Forms
• Congenital Bile Acid Synthesis Defect Type 4
• Congenital Cataracts, Hearing Loss, And Neurodegeneration
• Congenital Disorder Of Glycosylation
• Congenital Disorder Of Glycosylation, Type Ia
• Congenital Disorder Of Glycosylation, Type IC
• Congenital Disorder Of Glycosylation, Type Id
• Congenital Disorder Of Glycosylation, Type Ie
• Congenital Disorder Of Glycosylation, Type If
• Congenital Disorder Of Glycosylation, Type Ii
• Congenital Disorder Of Glycosylation, Type IIA
• Congenital Disorder Of Glycosylation, Type IIb
• Congenital Disorder Of Glycosylation, Type IIj
• Congenital Disorder Of Glycosylation, Type IIk
• Congenital Disorder Of Glycosylation, Type IIl
• Congenital Disorder Of Glycosylation, Type IIm
• Congenital Disorder Of Glycosylation, Type IIn
• Congenital Disorder Of Glycosylation, Type IIo
• Congenital Disorder Of Glycosylation, Type Ij
• Congenital Disorder Of Glycosylation, Type Ik
• Congenital Disorder Of Glycosylation, Type Il
• Congenital Disorder Of Glycosylation, Type Im
• Congenital Disorder Of Glycosylation, Type In
• Congenital Disorder Of Glycosylation, Type Ip
• Congenital Disorder Of Glycosylation, Type Is
• Congenital Disorder Of Glycosylation, Type Iu
• Congenital Disorder Of Glycosylation, Type Iv
• Congenital Disorder Of Glycosylation, Type Iw
• Congenital Disorder Of Glycosylation, Type Ix
• Congenital Disorder Of Glycosylation, Type Iy
• Congenital Disorder Of Glycosylation, Type Iz
• Congenital Intrauterine Infection-Like Syndrome
• Congenital Muscular Dystrophy, Fukuyama Type
• Congenital Neuronal Ceroid Lipofuscinosis
• Congenital Rubella Syndrome
• Congenital Toxoplasmosis
• Cono-Spondylar Dysplasia
• Convulsive Disorder, Familial, With Prenatal Or Early Onset
• Copper Deficiency, Familial Benign
• Cornelia De Lange Syndrome
• Cornelia De Lange Syndrome 1
• Cornelia De Lange Syndrome 2
• Cornelia De Lange Syndrome 5
• Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
• Corpus Callosum Agenesis-Neuronopathy Syndrome
• Corpus Callosum, Agenesis Of, With Abnormal Genitalia
• Corpus Callosum, Partial Agenesis Of, X-Linked
• Cortical Dysplasia, Complex, With Other Brain Malformations
• Cortical Dysplasia, Complex, With Other Brain Malformations 2
• Cortical Dysplasia, Complex, With Other Brain Malformations 3
• Cortical Dysplasia, Complex, With Other Brain Malformations 4
• Cortical Dysplasia, Complex, With Other Brain Malformations 5
• Cortical Dysplasia-Focal Epilepsy Syndrome
• Cowden Disease
• Cowden Syndrome
• Cowden Syndrome 5
• Cowden Syndrome 6
• Craniofacial Dyssynostosis With Short Stature
• Craniopharyngioma
• Craniosynostosis-Fibular Aplasia Syndrome
• Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
• Craniosynostosis-Mental Retardation-Clefting Syndrome
• Crigler-Najjar Syndrome
• Crigler-Najjar Syndrome Type 1
• Crisponi Syndrome
• Crome Syndrome
• Cronkhite-Canada Syndrome
• Crouzon Syndrome
• C Syndrome
• Cubitus Valgus With Mental Retardation And Unusual Facies
• Cutis Laxa, Autosomal Recessive, Type IIA
• Cutis Laxa, Autosomal Recessive, Type IIIA
• Cutis Marmorata Telangiectatica Congenita
• Cyclic Vomiting Syndrome
• D-2- Hydroxyglutaric Aciduria 1
• D-2- Hydroxyglutaric Aciduria 2
• Darier-White Disease
• D-Bifunctional Protein Deficiency
• Deafness, Dystonia, And Cerebral Hypomyelination
• Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, Andseizures Syndrome
• Dend Syndrome
• Dentatorubral-Pallidoluysian Atrophy Naito-Oyanagi Disease Haw River Syndrome Ataxia, Chorea, Seizures, And Dementia
• Dermoid Cysts, Familial Frontonasal
• Dermotrichic Syndrome
• Desanto-Shinawi Syndrome
• Desmosterolosis
• Developmental And Speech Delay Due To SOX5 Deficiency
• D-Glyceric Aciduria
• Diabetes-Deafness Syndrome, Maternally Transmitted
• Diabetes Insipidus, Nephrogenic, Autosomal
• Diabetes Insipidus, Nephrogenic, X-Linked
• Diabetes Mellitus, Permanent Neonatal
• Diaminopentanuria
• Digeorge Syndrome
• Dihydrolipoamide Dehydrogenase Deficiency
• Dihydropyrimidinase Deficiency
• Dihydropyrimidine Dehydrogenase Deficiency
• Distal 16p11.2 Microdeletion Syndrome
• Distal 22q11.2 Microdeletion Syndrome
• Distal 22q11.2 Microduplication Syndrome
• Distal 7q11.23 Microdeletion Syndrome
• Distal Monosomy 19p13.3
• Distal Monosomy 1q
• Distal Monosomy 3p
• Distal Monosomy 7q36
• Distal Trisomy 15q
• Distal Trisomy 17q
• Donnai-Barrow Syndrome
• Dopamine Beta-Hydroxylase Deficiency, Congenital
• Dpagt1-CDG
• DPM1-CDG
• Duane Retraction Syndrome
• Dubowitz Syndrome
• Dysequilibrium Syndrome
• Dyskinesia, Limb And Orofacial, Infantile-Onset
• Dysmyelination With Jaundice
• Dysosteosclerosis
• Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
• Early-Onset Lafora Body Disease
• Early-Onset Parkinsonism-Intellectual Disability Syndrome
• East Syndrome
• Ebola Hemorrhagic Fever
• Ectodermal Dysplasia Syndrome
• Edinburgh Malformation Syndrome
• Elejalde Disease
• Emanuel Syndrome
• Embryofetopathy Due To Oral Anticoagulant Therapy
• Encephalocraniocutaneous Lipomatosis
• Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
• Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
• Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
• Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria
• Encephalopathy Due To Sulfite Oxidase Deficiency
• Encephalopathy, Ethylmalonic
• Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
• Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
• Encephalopathy, Progressive, With Or Without Lipodystrophy
• Endomyocardial Fibroelastosis
• Epilepsy, Benign Occipital
• Epilepsy, Familial Adult Myoclonic, 4
• Epilepsy, Familial Adult Myoclonic, 5
• Epilepsy, Familial Focal, With Variable Foci
• Epilepsy, Familial Temporal Lobe, 5
• Epilepsy, Hearing Loss, And Mental Retardation Syndrome
• Epilepsy, Idiopathic Generalized, Susceptibility To, 3
• Epilepsy-Microcephaly-Skeletal Dysplasia Syndrome
• Epilepsy, Nocturnal Frontal Lobe, 3
• Epilepsy, Nocturnal Frontal Lobe, 4
• Epilepsy, Progressive Myoclonic 7
• Epilepsy, Reading
• Epilepsy-Telangiectasia
• Epilepsy-Telangiectasia Syndrome
• Epileptic Encephalopathy, Early Infantile, 27
• Epileptic Encephalopathy, Early Infantile, 28
• Epileptic Encephalopathy, Early Infantile, 31
• Epileptic Encephalopathy, Early Infantile, 32
• Epileptic Encephalopathy, Early Infantile, 33
• Epileptic Encephalopathy, Early Infantile, 5
• Epileptic Encephalopathy, Early Infantile, 7
• Epileptic Encephalopathy, Early Infantile, 8
• Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
• Episodic Ataxia, Type 6
• Episodic Kinesigenic Dyskinesia 1
• Epsilon-Trimethyllysine Hydroxylase Deficiency
• Fabry Disease
• Facial Asymmetry-Temporal Seizures Syndrome
• Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
• Facioscapulohumeral Muscular Dystrophy 1
• FADD-Related Immunodeficiency
• Familial Benign Copper Deficiency
• Familial Calcium Pyrophosphate Deposition
• Familial Dysautonomia
• Familial Isolated Hypoparathyroidism
• Familial Mediterranean Fever
• Familial Multiple Lipomatosis
• Familial Multiple Nevi Flammei
• Familial Thrombocytosis
• Fatty Metamorphosis Of Viscera
• Fetal Gaucher Disease
• FG Syndrome 4
• Fibrodysplasia Ossificans Progressiva
• Filippi Syndrome
• Flynn-Aird Syndrome
• Foix-Chavany-Marie Syndrome
• Folate Malabsorption, Hereditary
• Fountain Syndrome
• Fragile X Mental Retardation Syndrome
• Fragile X Syndrome
• Free Sialic Acid Storage Disease
• Frontal Encephalocele
• Fructose-1,6-Bisphosphatase Deficiency
• Fructose And Galactose Intolerance
• Fructose Intolerance, Hereditary
• Fryns Macrocephaly
• Fryns Syndrome
• Fucosidosis
• Gaba-Transaminase Deficiency
• Galactosemia
• Galactosialidosis
• Galloway-Mowat Syndrome
• Gaucher Disease, Atypical, Due To Saposin C Deficiency
• Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
• Gaucher Disease, Perinatal Lethal
• Gaucher Disease, Type II
• Gaucher Disease, Type IIIC
• Geleophysic Dysplasia 1
• Genitopatellar Syndrome
• Gingival Fibromatosis-Hypertrichosis Syndrome
• Gitelman Syndrome
• Glass Syndrome
• Glucocorticoid Deficiency 1
• Glut1 Deficiency Syndrome 1
• Glutamine Deficiency, Congenital
• Glutaric Acidemia I
• Glutaryl-CoA Dehydrogenase Deficiency
• Glutathione Synthetase Deficiency
• Glycine Encephalopathy
• Glycogen Storage Disease 0, Liver
• Glycogen Storage Disease Due To Acid Maltase Deficiency
• Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
• Glycogen Storage Disease Of Heart, Lethal Congenital
• Glycosylphosphatidylinositol Deficiency
• GM1 Gangliosidosis
• Goldberg-Shprintzen Megacolon Syndrome
• Gracile Bone Dysplasia
• Granulomatosis With Polyangiitis
• Greig Cephalopolysyndactyly Syndrome
• Griscelli Disease
• Griscelli Disease Type 1
• Griscelli Disease Type 2
• Griscelli Syndrome, Type 1
• Griscelli Syndrome, Type 2
• Grix-Blankenship-Peterson Syndrome
• Growth Retardation, Developmental Delay, Coarse Facies, And Earlydeath
• Grubben-De Cock-Borghgraef Syndrome
• Guanidinoacetate Methyltransferase Deficiency
• Gurrieri Syndrome
• Haddad Syndrome
• Hall-Riggs Mental Retardation Syndrome
• Hall-Riggs Syndrome
• Harrod Syndrome
• Hartnup Disease
• Hartnup Disorder
• Heart Defects, Congenital, And Other Congenital Anomalies
• Helsmoortel-Van Der AA Syndrome
• Hemifacial Atrophy, Progressive
• Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
• Hemophagocytic Lymphohistiocytosis, Familial, 1
• Hemophagocytic Lymphohistiocytosis, Familial, 2
• Hemophagocytic Lymphohistiocytosis, Familial, 4
• Hemorrhagic Destruction Of The Brain, Subependymal Calcification,And Cataracts
• Hennekam-Beemer Syndrome
• Hennekam Lymphangiectasia-Lymphedema Syndrome
• Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
• Hereditary Continuous Muscle Fiber Activity
• Hereditary Coproporphyria
• Hereditary Folate Malabsorption
• Hereditary Hemorrhagic Telangiectasia
• Hereditary Neurocutaneous Malformation
• Hernandez-Aguirre Negrete Syndrome
• Herpes Simplex Encephalitis, Susceptibility To, 7
• Heterotopia, Periventricular, X-Linked Dominant
• Hhhh Syndrome
• Hirschsprung Disease-Ganglioneuroblastoma Syndrome
• Holocarboxylase Synthetase Deficiency
• Holoprosencephaly
• Holoprosencephaly 2
• Holoprosencephaly 9
• Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
• Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolatereductase Activity
• Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
• Homocystinuria-Megaloblastic Anemia, CBLG Complementation Type
• Homocystinuria Without Methylmalonic Aciduria
• Horizontal Gaze Palsy With Progressive Scoliosis
• Huntington Disease
• Huntington Disease-Like 3
• Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
• Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
• Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
• Hyper-Beta-Alaninemia
• Hyperekplexia, Hereditary
• Hyperglycerolemia
• Hyperimmunoglobulinemia D With Periodic Fever
• Hyperinsulinism Due To Glucokinase Deficiency
• Hyperinsulinism Due To Hnf1A Deficiency
• Hyperinsulinism Due To Hnf4A Deficiency
• Hyperinsulinism Due To INSR Deficiency
• Hyperinsulinism Due To UCP2 Deficiency
• Hyperleucine-Isoleucinemia
• Hyperlysinemia, Type I
• Hypermethioninemia Due To Adenosine Kinase Deficiency
• Hyperphenylalaninemia, BH4-Deficient, A
• Hyperphenylalaninemia, BH4-Deficient, B
• Hyperphenylalaninemia, BH4-Deficient, C
• Hyperphosphatasia With Mental Retardation Syndrome 1
• Hyperphosphatasia With Mental Retardation Syndrome 2
• Hyperphosphatasia With Mental Retardation Syndrome 3
• Hyperphosphatasia With Mental Retardation Syndrome 4
• Hyperphosphatasia With Mental Retardation Syndrome 6
• Hyperphosphatemia, Polyuria, And Seizures
• Hyperprolinemia Type 1
• Hyperprolinemia, Type II
• Hypoadrenocorticism, Familial
• Hypocalcemia, Autosomal Dominant 1
• Hypocomplementemic Urticarial Vasculitis
• Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
• Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
• Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
• Hypoinsulinemic Hypoglycemia With Hemihypertrophy
• Hypomagnesemia 2, Renal
• Hypomagnesemia 3, Renal
• Hypomagnesemia 4, Renal
• Hypomagnesemia, Seizures, And Mental Retardation
• Hypomagnesemia With Secondary Hypocalcemia
• Hypomelanosis Of Ito
• Hypomyelination, Global Cerebral
• Hypoparathyroidism, Familial Isolated
• Hypoparathyroidism, X-Linked
• Hypophosphatasia
• Hypophosphatasia, Childhood
• Hypophosphatasia, Infantile
• Hypotonia, Infantile, With Psychomotor Retardation And Characteristicfacies
• Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
• Ichthyosis And Male Hypogonadism
• IFAP Syndrome With Or Without Bresheck Syndrome
• Immunodeficiency 26 With Or Without Neurologic Abnormalities
• Immunodeficiency 37
• Immunoglobulin A Vasculitis
• Incontinentia Pigmenti
• Infantile Axonal Neuropathy
• Infantile Cerebellar-Retinal Degeneration
• Infantile Choroidocerebral Calcification Syndrome
• Infantile Liver Failure Syndrome 1
• Infantile Neuroaxonal Dystrophy
• Infantile Neuronal Ceroid Lipofuscinosis
• Infantile-Onset X-Linked Spinal Muscular Atrophy
• Infantile Refsum Disease
• Infantile Sialic Acid Storage Disorder
• Infantile Spasms-Broad Thumbs Syndrome
• Infantile Symmetrical Thalamic Degeneration
• Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, Andcardiovascular Malformations
• Insulinoma
• Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
• Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
• Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
• Intellectual Disability, Wolff Type
• Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
• Isolated Cerebellar Hypoplasia/Agenesis
• Isolated Glycerol Kinase Deficiency
• Isolated Spina Bifida
• Isovaleric Acidemia
• Ito Hypomelanosis
• Jacobsen Syndrome
• Joubert Syndrome
• Joubert Syndrome 9
• Joubert Syndrome With Hepatic Defect
• Joubert Syndrome With Ocular Defect
• Joubert Syndrome With Oculorenal Defect
• Joubert Syndrome With Renal Defect
• Kabuki Syndrome
• Kabuki Syndrome 1
• Kabuki Syndrome 2
• Kagami-Ogata Syndrome
• Kallmann Syndrome
• Kapur-Toriello Syndrome
• Kearns-Sayre Syndrome
• Kenny-Caffey Syndrome, Type 1
• Kenny-Caffey Syndrome, Type 2
• Keppen-Lubinsky Syndrome
• Ketoadipicaciduria
• Keutel Syndrome
• Kifafa Seizure Disorder
• Kleefstra Syndrome
• Klippel-Trenaunay-Weber Syndrome
• Knobloch Syndrome
• Knobloch Syndrome, Type I
• Kohlschutter-Tonz Syndrome
• Koolen-De Vries Syndrome
• Krabbe Disease
• Kufor-Rakeb Syndrome
• L1 Syndrome
• L-2-Hydroxyglutaric Aciduria
• Landau-Kleffner Syndrome
• Large Congenital Melanocytic Nevus
• Lassa Fever
• Late Infantile Neuronal Ceroid Lipofuscinosis
• Late-Onset Isolated ACTH Deficiency
• Lathosterolosis
• Leber Congenital Amaurosis
• Leber Congenital Amaurosis 10
• Leigh Syndrome
• Leigh Syndrome, French Canadian Type
• Leopard Syndrome 3
• Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
• Leukodystrophy, Hypomyelinating, 2
• Leukodystrophy, Hypomyelinating, 3
• Leukodystrophy, Hypomyelinating, 4
• Leukodystrophy, Hypomyelinating, 5
• Leukodystrophy, Hypomyelinating, 6
• Leukoencephalopathy, Brain Calcifications, And Cysts
• Leukoencephalopathy, Cystic, Without Megalencephaly
• Leukoencephalopathy With Vanishing White Matter
• Lhermitte-Duclos Disease
• Linear Nevus Sebaceus Syndrome
• Linear Skin Defects With Multiple Congenital Anomalies 3
• Linear Verrucous Nevus Syndrome
• Lipodystrophy, Generalized, With Mental Retardation, Deafness, Shortstature, And Slender Bones
• Lipoid Proteinosis
• Lipoid Proteinosis Of Urbach And Wiethe
• Lissencephaly 1
• Lissencephaly 3
• Lissencephaly 4
• Lissencephaly 5
• Lissencephaly 6 With Microcephaly
• Lissencephaly Type 1 Due To Doublecortin Gene Mutation
• Lissencephaly, X-Linked, 1
• Lissencephaly, X-Linked, 2
• Lowe Oculocerebrorenal Syndrome
• LUBS X-Linked Mental Retardation Syndrome
• Lujan-Fryns Syndrome
• Lujo Hemorrhagic Fever
• Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
• Lymphangioleiomyomatosis
• Lynch Syndrome
• Macdermot-Winter Syndrome
• Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
• Malonyl-CoA Decarboxylase Deficiency
• Mandibulofacial Dysostosis, Guion-Almeida Type
• Mandibulofacial Dysostosis-Microcephaly Syndrome
• Mannosidosis, Beta A, Lysosomal
• Maple Syrup Urine Disease
• Marden-Walker Syndrome
• Maternal Hyperthermia Induced Birth Defects
• Maternal Uniparental Disomy Of Chromosome 1
• Maternal Uniparental Disomy Of Chromosome X
• Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
• Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
• Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
• Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
• Megalencephaly With Dysmyelination
• Megalocornea-Intellectual Disability Syndrome
• Megalocornea-Mental Retardation Syndrome
• Mehmo Syndrome
• Melanosis, Neurocutaneous
• Menkes Disease
• Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
• Mental Retardation Associated With Psoriasis
• Mental Retardation, Autosomal Dominant 13
• Mental Retardation, Autosomal Dominant 15
• Mental Retardation, Autosomal Dominant 16
• Mental Retardation, Autosomal Dominant 17
• Mental Retardation, Autosomal Dominant 20
• Mental Retardation, Autosomal Dominant 22
• Mental Retardation, Autosomal Dominant 29
• Mental Retardation, Autosomal Dominant 31
• Mental Retardation, Autosomal Dominant 32
• Mental Retardation, Autosomal Dominant 35
• Mental Retardation, Autosomal Dominant 36
• Mental Retardation, Autosomal Dominant 38
• Mental Retardation, Autosomal Dominant 5
• Mental Retardation, Autosomal Dominant 9
• Mental Retardation, Autosomal Recessive 13
• Mental Retardation, Autosomal Recessive 15
• Mental Retardation, Autosomal Recessive 37
• Mental Retardation, Autosomal Recessive 38
• Mental Retardation, Autosomal Recessive 41
• Mental Retardation, Autosomal Recessive 42
• Mental Retardation, Autosomal Recessive 44
• Mental Retardation, Autosomal Recessive 46
• Mental Retardation, Autosomal Recessive 5
• Mental Retardation, Autosomal Recessive 52
• Mental Retardation, Autosomal Recessive 53
• Mental Retardation, Autosomal Recessive 6
• Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis,And Hypoplastic Teeth
• Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
• Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
• Mental Retardation Syndrome, Belgian Type
• Mental Retardation With Optic Atrophy, Deafness, And Seizures
• Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
• Mental Retardation, X-Linked 100
• Mental Retardation, X-Linked 101
• Mental Retardation, X-Linked 102
• Mental Retardation, X-Linked 14
• Mental Retardation, X-Linked 21
• Mental Retardation, X-Linked 30
• Mental Retardation, X-Linked 72
• Mental Retardation, X-Linked 88
• Mental Retardation, X-Linked 9
• Mental Retardation, X-Linked 90
• Mental Retardation, X-Linked 91
• Mental Retardation, X-Linked 96
• Mental Retardation, X-Linked 98
• Mental Retardation, X-Linked 99, Syndromic, Female-Restricted
• Mental Retardation, X-Linked, Snyder-Robinson Type
• Mental Retardation, X-Linked, Syndromic 12
• Mental Retardation, X-Linked, Syndromic 13
• Mental Retardation, X-Linked, Syndromic 32
• Mental Retardation, X-Linked, Syndromic 33
• Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
• Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
• Mental Retardation, X-Linked, Syndromic, Nascimento Type
• Mental Retardation, X-Linked, Syndromic, Wu Type
• Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctivefacial Appearance
• Mental Retardation, X-Linked, With Short Stature, Hypogonadism, Andabnormal Gait
• Mercury Poisoning
• Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
• Metachromatic Leukodystrophy
• Metachromatic Leukodystrophy Due To Saposin B Deficiency
• Methionine Malabsorption Syndrome
• Methylmalonic Acidemia With Homocystinuria
• Methylmalonic Acidemia With Homocystinuria, Type Cblc
• Methylmalonic Acidemia With Homocystinuria, Type Cbld
• Methylmalonic Acidemia With Homocystinuria Type Cblf
• Methylmalonic Aciduria And Homocystinuria, Cblc Type
• Methylmalonic Aciduria And Homocystinuria, Cbld Type
• Methylmalonic Aciduria, Cbla Type
• Mevalonic Aciduria
• Microcephalic Osteodysplastic Primordial Dwarfism, Type I
• Microcephalic Osteodysplastic Primordial Dwarfism Type II
• Microcephaly 13, Primary, Autosomal Recessive
• Microcephaly 14, Primary, Autosomal Recessive
• Microcephaly 16, Primary, Autosomal Recessive
• Microcephaly 2, Primary, Autosomal Recessive, With Or Without Corticalmalformations
• Microcephaly 5, Primary, Autosomal Recessive
• Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
• Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
• Microcephaly-Capillary Malformation Syndrome
• Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
• Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusualappearance
• Microcephaly-Intellectual Disability-Phalangeal And Neurological Anomalies Syndrome
• Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
• Microcephaly, Primary Autosomal Recessive, 1
• Microcephaly, Seizures, And Developmental Delay
• Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
• Microduplication Xp11.22-P11.23 Syndrome
• Microlissencephaly-Micromelia Syndrome
• Microphthalmia, Lenz Type
• Microphthalmia, Syndromic 1
• Microphthalmia, Syndromic 2
• Microphthalmia, Syndromic 5
• Microphthalmia, Syndromic 7
• Microphthalmia With Brain And Digit Anomalies
• Micro Syndrome
• Migraine, Familial Hemiplegic, 1
• Migraine, Familial Hemiplegic, 2
• Migraine, Familial Hemiplegic, 3
• Miller-Dieker Lissencephaly Syndrome
• Miller-Dieker Syndrome
• Mitochondrial Complex I Deficiency
• Mitochondrial Complex II Deficiency
• Mitochondrial Complex III Deficiency, Nuclear Type 1
• Mitochondrial Complex III Deficiency, Nuclear Type 7
• Mitochondrial Complex IV Deficiency
• Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2
• Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)
• Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
• Mitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type)
• Mitochondrial DNA Depletion Syndrome 4B (Mngie Type)
• Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic With Orwithout Methylmalonic Aciduria)
• Mitochondrial DNA Depletion Syndrome 8A (Encephalomyopathic Type Withrenal Tubulopathy)
• Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type Withmethylmalonic Aciduria)
• Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
• Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
• Mitochondrial Pyruvate Carrier Deficiency
• Mixed Connective Tissue Disease
• Mogs-CDG
• Molybdenum Cofactor Deficiency, Complementation Group A
• Monosomy 18q
• Monosomy 22q13
• Monosomy 9p
• Monosomy 9q22.3
• Monosomy Xp21
• Mosaic Trisomy 14
• Mosaic Variegated Aneuploidy Syndrome
• Mowat-Wilson Syndrome
• Moyamoya Disease
• Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism,And Facial Dysmorphism
• Moyamoya Disease 6 With Achalasia
• Moynahan Syndrome
• Mpdu1-CDG
• Mucopolysaccharidosis Type 2
• Mucopolysaccharidosis Type 3
• Mucopolysaccharidosis Type II
• Mucopolysaccharidosis Type IIIA
• Mucopolysaccharidosis Type IIIB
• Mucopolysaccharidosis Type IIIC
• Mucopolysaccharidosis, Type IIID
• Multiple Carboxylase Deficiency
• Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
• Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
• Multiple Mitochondrial Dysfunctions Syndrome 2
• Multiple Sulfatase Deficiency
• Muscle-Eye-Brain Disease
• Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
• Muscular Dystrophy, Congenital, Megaconial Type
• Muscular Dystrophy, Congenital Merosin-Deficient, 1A
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, 13
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, 2
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, 3
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
• Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 14
• Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
• Muscular Dystrophy-White Matter Spongiosis Syndrome
• Myasthenia Gravis
• Myhre Syndrome
• Myoclonic Epilepsy Associated With Ragged-Red Fibers
• Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
• Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome
• N-Acetylaspartate Deficiency
• N-Acetylglutamate Synthase Deficiency
• Nasu-Hakola Disease
• Neonatal Adrenoleukodystrophy
• Nephrogenic Diabetes Insipidus
• Nephrogenic Syndrome Of Inappropriate Antidiuresis
• Nephronophthisis 15
• Nephronophthisis-Like Nephropathy 1
• Netherton Syndrome
• Neuraminidase Deficiency
• Neuraminidase Deficiency With Beta-Galactosidase Deficiency
• Neurocutaneous Melanocytosis
• Neurodegeneration Due To Cerebral Folate Transport Deficiency
• Neurodegeneration With Brain Iron Accumulation 2A
• Neurodegeneration With Brain Iron Accumulation 2B
• Neurodegeneration With Brain Iron Accumulation 5
• Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
• Neurofibromatosis Type 1
• Neurofibromatosis, Type I
• Neurologic Waardenburg-Shah Syndrome
• Neuromyelitis Optica
• Neuronal Ceroid Lipofuscinosis
• Neuronal Intranuclear Inclusion Disease
• Neuropathy, Ataxia, And Retinitis Pigmentosa
• Neutropenia, Severe Congenital, Autosomal Recessive 3
• Nevus Comedonicus Syndrome
• Nicolaides-Baraitser Syndrome
• Niemann-Pick Disease Type C
• Niemann-Pick Disease, Type C1
• Niemann-Pick Disease, Type C2
• Nipah Virus Disease
• Nodular Neuronal Heterotopia
• Non-Functioning Pituitary Adenoma
• Norrie Disease
• Oculocerebral Hypopigmentation Syndrome, Preus Type
• Oculocerebrocutaneous Syndrome
• Oculocerebrorenal Syndrome Of Lowe
• Oculodentodigital Dysplasia
• Oculoectodermal Syndrome
• Olivopontocerebellar Atrophy-Deafness Syndrome
• Ondine Syndrome
• Opitz-Kaveggia Syndrome
• Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
• Orofaciodigital Syndrome I
• Orofaciodigital Syndrome Type 1
• Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
• Osteopathia Striata With Cranial Sclerosis
• Osteopetrosis, Autosomal Recessive 1
• Osteosclerotic Metaphyseal Dysplasia
• Pachygyria, Frontotemporal
• Pachygyria-Intellectual Disability-Epilepsy Syndrome
• Pallister-Hall Syndrome
• Pallister-Killian Syndrome
• Pallister W Syndrome
• Pancreatic And Cerebellar Agenesis
• Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
• Pantothenate Kinase-Associated Neurodegeneration
• Papilloma Of Choroid Plexus
• Papillorenal Syndrome
• Parietal Foramina
• Parkinson Disease 19, Juvenile-Onset
• Paroxysmal Extreme Pain Disorder
• Paroxysmal Nonkinesigenic Dyskinesia 2
• Partial Acquired Lipodystrophy
• Partington X-Linked Mental Retardation Syndrome
• Paternal Uniparental Disomy Of Chromosome 1
• Patterson Pseudoleprechaunism Syndrome
• Peho Syndrome
• Pelizaeus-Merzbacher Disease
• Periventricular Heterotopia With Microcephaly, Autosomal Recessive
• Periventricular Nodular Heterotopia 6
• Peroxisomal Acyl-CoA Oxidase Deficiency
• Peroxisomal Fatty ACYL-CoA Reductase 1 Disorder
• Peroxisome Biogenesis Disorder 10A (Zellweger)
• Peroxisome Biogenesis Disorder 11A (Zellweger)
• Peroxisome Biogenesis Disorder 12A (Zellweger)
• Peroxisome Biogenesis Disorder 13A (Zellweger)
• Peroxisome Biogenesis Disorder 1A (Zellweger)
• Peroxisome Biogenesis Disorder 1B
• Peroxisome Biogenesis Disorder 2A (Zellweger)
• Peroxisome Biogenesis Disorder 3A (Zellweger)
• Peroxisome Biogenesis Disorder 4A (Zellweger)
• Peroxisome Biogenesis Disorder 5A (Zellweger)
• Peroxisome Biogenesis Disorder 6A (Zellweger)
• Peroxisome Biogenesis Disorder 7A (Zellweger)
• Peroxisome Biogenesis Disorder 8A (Zellweger)
• Perrault Syndrome 3
• Perrault Syndrome 5
• Peters-Plus Syndrome
• Pettigrew Syndrome
• Pfeiffer Syndrome Type 2
• Pfeiffer Syndrome Type 3
• Phace Association
• Phace Syndrome
• Phakomatosis Pigmentovascularis
• Phelan-Mcdermid Syndrome
• Phenylketonuria
• Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
• Phosphoglycerate Dehydrogenase Deficiency
• Phosphoglycerate Kinase 1 Deficiency
• Phosphoserine Aminotransferase Deficiency
• Phosphoserine Phosphatase Deficiency
• Pigmentary Disorder, Reticulate, With Systemic Manifestations
• Pineoblastoma
• Pitt-Hopkins Syndrome
• Pituitary Deficiency Due To Empty Sella Turcica Syndrome
• Pituitary Dermoid And Epidermoid Cysts
• Pituitary Stalk Interruption Syndrome
• Plantar Lipomatosis, Unusual Facies, And Developmental Delay
• Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
• Polymicrogyria, Bilateral Frontoparietal
• Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
• Polymicrogyria, Symmetric Or Asymmetric
• Polymicrogyria With Optic Nerve Hypoplasia
• Polymicrogyria With Seizures
• Pontine Tegmental Cap Dysplasia
• Pontocerebellar Hypoplasia, Type 1B
• Pontocerebellar Hypoplasia, Type 2A
• Pontocerebellar Hypoplasia, Type 2B
• Pontocerebellar Hypoplasia, Type 2D
• Pontocerebellar Hypoplasia, Type 2E
• Pontocerebellar Hypoplasia, Type 3
• Pontocerebellar Hypoplasia, Type 4
• Pontocerebellar Hypoplasia, Type 5
• Pontocerebellar Hypoplasia, Type 6
• Pontocerebellar Hypoplasia, Type 7
• Pontocerebellar Hypoplasia, Type 9
• Porencephaly
• Porencephaly 1
• Porencephaly 2
• Porphyria
• Porphyria, Acute Intermittent
• Porphyria Due To ALA Dehydratase Deficiency
• Porphyria Variegata
• Potocki-Lupski Syndrome
• Potocki-Shaffer Syndrome
• Prader-Willi-Like Syndrome
• Prader-Willi Syndrome
• Preeclampsia/Eclampsia 1
• Primary Cutis Verticis Gyrata
• Primary Intestinal Lymphangiectasia
• Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions,Autosomal Dominant, 3
• Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions,Autosomal Dominant, 4
• Progressive Hemifacial Atrophy
• Prolactinoma
• Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
• Propionic Acidemia
• Proteus Syndrome
• Proximal 16p11.2 Microdeletion Syndrome
• Pseudohypoparathyroidism, Type IA
• Pseudohypoparathyroidism, Type IC
• Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
• Pterygia, Mental Retardation, And Distinctive Craniofacial Features
• Puerto Rican Infant Hypotonia Syndrome
• Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
• Pyruvate Carboxylase Deficiency
• Pyruvate Dehydrogenase Deficiency
• Pyruvate Dehydrogenase E1-Alpha Deficiency
• Pyruvate Dehydrogenase E3-Binding Protein Deficiency
• Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
• Pyruvate Dehydrogenase Phosphatase Deficiency
• Rabies
• Ramon Syndrome
• Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
• Recombinant 8 Syndrome
• Recombinant Chromosome 8 Syndrome
• Renpenning Syndrome 1
• Retinal Degeneration And Epilepsy
• Retinal Vasculopathy And Cerebral Leukoencephalopathy
• Rett Syndrome
• Rett Syndrome, Congenital Variant
• RFT1-CDG
• Rhizomelic Chondrodysplasia Punctata, Type 1
• Rhizomelic Chondrodysplasia Punctata, Type 5
• Riboflavin Transporter Deficiency
• Ribose 5-Phosphate Isomerase Deficiency
• Rift Valley Fever
• Ring Chromosome 10
• Rosai-Dorfman Disease
• Rubinstein-Taybi Syndrome
• Rubinstein-Taybi Syndrome 1
• Ruvalcaba Syndrome
• Saethre-Chotzen Syndrome
• Sandhoff Disease
• Sanjad-Sakati Syndrome
• Schimmelpenning-Feuerstein-MIMS Syndrome
• Schindler Disease, Type I
• Schinzel-Giedion Midface Retraction Syndrome
• Schizencephaly
• Scleroderma
• SC Phocomelia Syndrome
• Scrub Typhus
• Seckel Syndrome 1
• Seckel Syndrome 7
• Seizures, Cortical Blindness, And Microcephaly Syndrome
• Seizures, Scoliosis, And Macrocephaly Syndrome
• Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, Andelectrolyte Imbalance
• Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
• Septo-Optic Dysplasia Spectrum
• Severe Canavan Disease
• Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
• Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
• Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
• Short Stature-Heart Defect-Craniofacial Anomalies Syndrome
• Sialidosis Type 1
• Sialidosis Type 2
• Sialuria
• Sialuria, Finnish Type
• Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
• Simpson-Golabi-Behmel Syndrome
• Sjogren-Larsson Syndrome
• Sjogren-Larsson Syndrome
• Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
• Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
• Smith-Lemli-Opitz Syndrome
• Smith-Magenis Syndrome
• Sneddon Syndrome
• Solitary Median Maxillary Central Incisor Syndrome
• Sotos Syndrome
• Sotos Syndrome 1
• Spastic Ataxia With Congenital Miosis
• Spasticity, Childhood-Onset, With Hyperglycinemia
• Spastic Paraplegia 18, Autosomal Recessive
• Spastic Paraplegia 35, Autosomal Recessive
• Spastic Paraplegia 44, Autosomal Recessive
• Spastic Paraplegia 47, Autosomal Recessive
• Spastic Paraplegia 49, Autosomal Recessive
• Spastic Paraplegia 50, Autosomal Recessive
• Spastic Paraplegia 51, Autosomal Recessive
• Spastic Paraplegia 6, Autosomal Dominant
• Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
• Spastic Paraplegia, Epilepsy, And Mental Retardation
• Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
• Spinocerebellar Ataxia 10
• Spinocerebellar Ataxia 17
• Spinocerebellar Ataxia, Autosomal Recessive 12
• Spinocerebellar Ataxia, Autosomal Recessive 13
• Spinocerebellar Ataxia, Autosomal Recessive 15
• Spinocerebellar Ataxia, Autosomal Recessive 20
• Spinocerebellar Ataxia, Autosomal Recessive 23
• Spinocerebellar Ataxia, X-Linked 3
• Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
• Spondyloepimetaphyseal Dysplasia, X-Linked, With Mental Deterioration
• Spontaneous Periodic Hypothermia
• SSR4-CDG
• Stevenson-Carey Syndrome
• Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
• Stt3A-CDG
• Stt3B-CDG
• Sturge-Weber Syndrome
• Sulfocysteinuria
• Suprabulbar Paresis, Congenital
• Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
• Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
• Syndromic X-Linked Ichthyosis
• Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
• Systemic Lupus Erythematosus
• Systemic Sclerosis
• Takayasu Arteritis
• Tatton-Brown-Rahman Syndrome
• Tay-Sachs Disease
• Tay-Sachs Disease, AB Variant
• Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber
• Telangiectasia, Hereditary Hemorrhagic, Type 2
• Temple-Baraitser Syndrome
• Tenorio Syndrome
• Tetrasomy 18p
• Tetrasomy 5p
• Tetrasomy 9p
• Thanatophoric Dysplasia
• Thanatophoric Dysplasia Type 1
• Thanatophoric Dysplasia Type 2
• Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsivetype)
• Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathytype)
• Thiamine-Responsive Megaloblastic Anemia Syndrome
• Thoracic Dysplasia-Hydrocephalus Syndrome
• Threoninemia
• Thrombocytopenia-Absent Radius Syndrome
• Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
• Thrombotic Thrombocytopenic Purpura
• Thyrocerebroretinal Syndrome
• Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
• Trigonocephaly With Short Stature And Developmental Delay
• Triple A Syndrome
• Trisomy 13
• Trisomy X
• TSH-Secreting Pituitary Adenoma
• Tuberous Sclerosis Complex
• Tyrosinemia, Type III
• Vasculopathy, Retinal, With Cerebral Leukodystrophy
• Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Orwithout Atrial Dysfunction And/Or Dilated Cardiomyopathy
• Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
• Ventriculomegaly With Cystic Kidney Disease
• Vici Syndrome
• Viral Hemorrhagic Fever
• Vitamin B12-Unresponsive Methylmalonic Acidemia
• Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
• Waisman Syndrome
• Warburg Micro Syndrome 3
• Warburg Micro Syndrome 4
• Weaver Syndrome
• Webb-Dattani Syndrome
• Whipple Disease
• Wieacker-Wolff Syndrome
• Wiedemann-Steiner Syndrome
• Wolcott-Rallison Syndrome
• Wolf-Hirschhorn Syndrome
• Wolfram Syndrome
• Wolfram Syndrome 1
• Wolfram Syndrome, Mitochondrial Form
• Worster-Drought Syndrome
• Wyburn-Mason Syndrome
• Xeroderma Pigmentosum
• X-Linked Centronuclear Myopathy
• X-Linked Charcot-Marie-Tooth Disease Type 2
• X-Linked Complicated Corpus Callosum Dysgenesis
• X-Linked Creatine Transporter Deficiency
• X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome
• X-Linked Intellectual Disability, Armfield Type
• X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
• X-Linked Intellectual Disability, Cabezas Type
• X-Linked Intellectual Disability, Cantagrel Type
• X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
• X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
• X-Linked Intellectual Disability-Epilepsy Syndrome
• X-Linked Intellectual Disability, Golabi-Ito-Hall Type
• X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
• X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
• X-Linked Intellectual Disability, Najm Type
• X-Linked Intellectual Disability, Pai Type
• X-Linked Intellectual Disability, Shashi Type
• X-Linked Intellectual Disability, Turner Type
• X-Linked Intellectual Disability With Marfanoid Habitus
• X-Linked Lissencephaly With Abnormal Genitalia
• X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
• X-Linked Neurodegenerative Syndrome, Hamel Type
• Xp22.13p22.2 Duplication Syndrome
• Xq28 (Mecp2) Duplication
• Xylosidase Deficiency
• Zellweger Syndrome
• Zimmermann-Laband Syndrome 1
• Zlotogora-Ogur Syndrome

Causes List for Seizures

List of possible causes of Seizures or similar symptoms may include:¹⁴

• ACTH resistance (Seizures)
• ADHD (Absence seizures)
• ADNP syndrome (Seizures)
• AICAR transformylase/IMP cyclohydrolase deficiency (Seizures)
• AIDS Neurological Complications (seizures)
• AIDS ...

... Full Causes List for Seizures »

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References

1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ epilepsy/ detail_epilepsy.htm
2. ibid.
3. Source: NINDS (NIH): ninds.nih.gov/ disorders/ epilepsy/ epilepsy_research.htm
4. Source: NINDS (NIH): ninds.nih.gov/ disorders/ epilepsy/ detail_epilepsy.htm
5. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ rett/ Learn-More/ Disorder-Definitions
6. Source: NHS Choices UK: nhs.uk/ conditions/ angelman-syndrome/ 
7. Source: NHS Choices UK: nhs.uk/ conditions/ Breath-holding-spells-in-children/ 
8. ibid.
9. Source: NHS Choices UK: nhs.uk/ conditions/ fainting/ causes/ 
10. Source: NHS Choices UK: nhs.uk/ conditions/ long-qt-syndrome/ 
11. Source: NHS Choices UK: nhs.uk/ conditions/ neurofibromatosis-type-1/ symptoms/ 
12. Source: NHS Choices UK: nhs.uk/ conditions/ tuberous-sclerosis/ symptoms/ 
13. Source: Human Phenotype Ontology
14. Source: Algorithmically Generated List

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.