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intellectual disability-seizures-macrocephaly-obesity syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Mondo Term and Equivalent IDs
MONDO:0018248:  intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:369950: 
UMLS:CN204818: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found