Conditions / Genetic
non-syndromic X-linked intellectual disability 99
info · Genetic
A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4.
Signs and symptoms
- Hypotonia
- Intellectual disability
- Global developmental delay
- Broad thumb
- Joint hypermobility
- Ectopic kidney
- Gastroesophageal reflux
- Relative macrocephaly
- Broad hallux
- Prominent forehead
Also known as: MRX99; X-linked mental retardation 99