Intellectual disability-seizures-macrocephaly-obesity syndrome

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Intellectual disability-seizures-macrocephaly-obesity syndrome

Synonyms: Der(8)t(8;12)

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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