Aase-Smith syndrome

MONDO:0007839

Aase-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.

Also known as: Aase-Smith I syndrome, Aase-Smith syndrome, Aase-Smith syndrome type 1, hydrocephalus-cleft palate-joint contractures syndrome, Aase-Smith syndrome 1, Aase-Smith syndrome I, Joint contractures with Other abnormalities

1 clinical trial for this condition and its sub-types, 0 tagged with Aase-Smith syndrome itself.

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↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163) ↑ Central nervous system malformation (51)

Including sub-types (1) Tagged with Aase-Smith syndrome (0)

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