Intellectual disability-seizures-macrocephaly-obesity syndrome

Orpha code: 369950OMIM code:

Definicja

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
Klasyfikacja

Disease

Synonimy
Der(8)t(8;12)
Der(8)t(8;12)
Kod ORPHA
369950
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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