Conditions / Genetic
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.
Signs and symptoms
- Pulmonary hypoplasia
- Hernia
- Ventricular septal defect
- Specific learning disability
- Genu valgum
- Arachnodactyly
- Genu varum
- Feeding difficulties
- Poor suck
- Global developmental delay
Also known as: NEDFBA