Conditions / Genetic
autosomal recessive intellectual developmental disorder 61
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13.
Signs and symptoms
- Hypotonia
- Intellectual disability
- Axial hypotonia
- Prominent fingertip pads
- Infantile spasms
- Spasticity
- Bulbous nose
- High palate
- Hyperreflexia
- Long face
Also known as: Alwadei syndrome; autosomal recessive intellectual developmental disorder-61; autosomal recessive mental retardation 61