Aase-Smith syndrome
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0020022
central nervous system malformation
is_a
Aase-Smith I syndrome
exact
Aase-Smith syndrome
exact
Aase-Smith syndrome type 1
exact
hydrocephalus-cleft palate-joint contractures syndrome
exact