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ORPHA:2510· ICD-10 Q87.0· Micro syndrome

Визначення(English summary)

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood