Baraitser-Winter syndrome type 1
Baraitser-Winter syndrome type 1: See http://www.omim.org/entry/243310
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Symptoms of Baraitser-Winter syndrome type 1
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of head or neck
- Abnormality of calvarial morphology
- Anteverted nares
- Chorioretinal coloboma
- Cleft lip/palate
- Enophthalmos
- Highly arched eyebrow
- Hypertelorism
- Iris coloboma
- Long palpebral fissure
- Long philtrum
- Low posterior hairline
- Microcephaly ...
Genetics of Baraitser-Winter syndrome type 1
Modes of inheritance:
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO)
...Source: GTR (NCBI/NIH)2
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Names and Terminology
Synonyms:
BARAITSER-WINTER SYNDROME 1, ATYPICAL ; CEREBROOCULOFACIAL LYMPHATIC SYNDROME ; Cerebro-fronto-facial Syndrome ; Cerebrofrontofacial syndrome ; FRYNS-AFTIMOS SYNDROME ; Iris coloboma with ptosis, hypertelorism, and mental retardation
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References
- Source: Monarch Initiative
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1855722/
- ibid.
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