Conditions / Genetic
Luo-Schoch-Yamamoto syndrome
info · Genetic
A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.
Signs and symptoms
- Strabismus
- Seizure
- Hypotonia
- Severe intellectual disability
- Hypertelorism
- Feeding difficulties in infancy
- Exotropia
- Severe global developmental delay
- Intrauterine growth retardation
- Astigmatism
Also known as: LUSYAM