Conditions / Genetic
non-syndromic X-linked intellectual disability 9
info · Genetic
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23.
Signs and symptoms
- Moderate intellectual disability
- Global developmental delay
- Intellectual disability
- Macrotia
- Periorbital fullness
- Long palpebral fissure
- Thick lower lip vermilion
- Aggressive behavior
- Delayed speech and language development
- Delayed gross motor development
Also known as: MRX44; MRX9; X-linked mental retardation 44; X-linked mental retardation 9