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Aase-Smith syndrome
rareAase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
- Identifiers
- MONDO:0007839 OMIM:147800Orphanet:916
- Part of
- Central nervous system malformationCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Aase-Smith I syndrome · Aase-Smith syndrome type 1 · hydrocephalus-cleft palate-joint contractures syndrome
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