Conditions / Genetic
syndromic X-linked intellectual developmental disorder bain type
info · Genetic
A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutat
A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
Signs and symptoms
- Hypotonia
- Intellectual disability
- Global developmental delay
- Seizure
- Autistic behavior
- Short philtrum
- Low hanging columella
- Developmental regression
- Underdeveloped nasal alae
- Short stature
Also known as: HNRNPH2-RNDD; HNRNPH2-related neurodevelopmental disorder; MRXSB; Mental Retardation, X-linked, Syndrome, Bain Type