Intellectual disability-seizures-macrocephaly-obesity syndrome

Orpha code: 369950OMIM code:

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.

Disease data
Classification

Disease

Synonyms
Der(8)t(8;12)
Der(8)t(8;12)
ORPHA code
369950
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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