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intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Disease Summary
Associated Targets ()
Mondo Description Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0015458: intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0012487
Orphanet:1495
SCTID:722455002
UMLS:CN199578
MONDO:0015458
High level summary of knowledge for a disease, including descriptions and datasource references.