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intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

Disease Summary
Associated Targets (0)

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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
GARD:0012487: 
Orphanet:1495: 
SCTID:722455002: 
UMLS:CN199578: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found