RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
Synonyms:
exact_synonym:
ACLS; Acrocallosal Syndrome, Schinzel Type; Acrocallosal syndromes; Hallux duplication, postaxial polydactyly, and absence of corpus callosum; SCHINZEL ACROCALLOSAL SYNDROME; Schinzel syndrome 1
ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type DNA:missense,frameshift mutations:cds: DNA:mutations:cds,splice junction: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic