Acrocallosal syndrome

MONDO:0008708

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

Also known as: ACLS, ACS, Schinzel acrocallosal syndrome, Schinzel syndrome 1, acrocallosal syndrome, Joubert syndrome 12, Joubert syndrome 12/15, digenic, absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly

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