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Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950· ICD-10 Q87.8

Definition

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.

Prevalence
<1 / 1 000 000
Inheritance
Not applicable, Unknown
Age of onset
Infancy, Neonatal