Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Orpha code: 363741OMIM code: 601794

Definition

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.

Disease data
Classification

Disease

ORPHA code
363741
OMIM code
601794
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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