Conditions / Genetic
autosomal recessive intellectual developmental disorder 72
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31.
Signs and symptoms
- Microcephaly
- Delayed speech and language development
- Severe intellectual disability
- Decreased body weight
- Aggressive behavior
- Macrotia
- Attention deficit hyperactivity disorder
- Spasticity
- Narrow nasal base
- Long philtrum
Also known as: autosomal recessive intellectual developmental disorder-72; autosomal recessive mental retardation 72