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intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
Mondo Term and Equivalent IDs
MONDO:0018123:  intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Orphanet:352530: 
UMLS:CN204496: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found