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microcephaly-deafness-intellectual disability syndrome

Disease Summary
Associated Targets ()

Mondo Description Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0007991:  microcephaly-deafness-intellectual disability syndrome
GARD:0000230: 
MESH:C537326: 
Orphanet:2533: 
SCTID:716112005: 
UMLS:C0796062: