Conditions / Genetic
autosomal recessive intellectual developmental disorder 68
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.
Signs and symptoms
- Delayed ability to walk
- Seizure
- Cerebellar atrophy
- Pes planus
- Microcephaly
- Wide nasal bridge
- Global developmental delay
- Hypoplasia of the maxilla
- Synophrys
- Delayed speech and language development