Intellectual disability-seizures-macrocephaly-obesity syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
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.
Also known as Der(8)t(8;12) — per MONDO