You are using an outdated browser. Please upgrade your browser to improve your experience.

intellectual disability-seizures-macrocephaly-obesity syndrome

Disease Summary
Associated Targets ()

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: