Conditions / Genetic
autosomal dominant intellectual developmental disorder 44
info ยท Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.
Signs and symptoms
- Intellectual disability
- Motor delay
- Recurrent infections
- Delayed speech and language development
- Dental crowding
- Fatigue
- High forehead
- Microcephaly
- Dysphagia
- Attention deficit hyperactivity disorder
Also known as: MRD44; autosomal dominant intellectual developmental disorder 44 with microcephaly; autosomal dominant mental retardation 44; autosomal dominant non-syndromic intellectual disability 44