Aniridia, cerebellar ataxia, and mental retardation
Symptoms of Aniridia, cerebellar ataxia, and mental retardation
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of head or neck
- Mask-like facies
- Abnormality of the cardiovascular system
- Abnormality of the pulmonary artery
- Abnormality of the musculature
- Muscular hypotonia
- Abnormality of the nervous system
- Ataxia
- Cerebellar hypoplasia ...
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Genetics of Aniridia, cerebellar ataxia, and mental retardation
Modes of inheritance:
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (OMIM, Orphanet)
not inherited (Orphanet)
...Source: GTR (NCBI/NIH)1
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Treatments
See also the following treatment articles:
Causes
See also causal information:
Similar Topic Articles
Names and Terminology
Synonyms:
GILLESPIE SYNDROME
...Source: GTR (NCBI/NIH)2
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... More General Information on Aniridia, cerebellar ataxia, and mental retardation »
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References
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0431401/
- ibid.
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