acrocallosal syndrome
Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0800066
polydactyly-syndactyly-triphalangism
is_a
MONDO:0800463
KIF7-related ciliopathy
is_a
ACLS
exact
ACS
exact
Schinzel acrocallosal syndrome
exact
Schinzel syndrome 1
exact
absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly
related
acrocallosal syndrome
exact
acrocallosal syndrome, Schinzel type
related