Micro syndrome
ORPHA:2510· ICD-10 Q87.0
Definition
A rare neurodevelopmental disorder characterized by severe intellectual disability, progressive spasticity, postnatal microcephaly, and ocular abnormalities, including congenital cataracts, microphthalmia, and optic atrophy. Other frequent findings are hypothalamic hypogonadism and brain malformations.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood