MORM syndrome
ORPHA:75858· ICD-10 Q87.8
Definition
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal