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acrocallosal syndrome

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
Uniprot Description An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation.
Disease Ontology Description A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0008708:  acrocallosal syndrome
GARD:0005721: 
MESH:D055673: 
NCIT:C84531: 
Orphanet:36: 
SCTID:715951007: 
UMLS:C0796147: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)