Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Orpha code: 363741OMIM code: 601794

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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