Conditions / Genetic
non-syndromic X-linked intellectual disability 21
info · Genetic
A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromoso
A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.
Signs and symptoms
- Moderate intellectual disability
- Joint hypermobility
- Mandibular prognathia
- Synophrys
- Upslanted palpebral fissure
- Tented upper lip vermilion
- Open mouth
- Short nose
- Uplifted earlobe
- Autism
Also known as: MRX21; MRX34; X-linked mental retardation 21; X-linked mental retardation 21/34; X-linked mental retardation 34