Conditions / Genetic
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
info · Genetic
An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Delayed speech and language development
- Aggressive behavior
- Microcephaly
- Short stature
- Smooth philtrum
- Decreased body weight
- Deeply set eye
- Sensorineural hearing impairment
Also known as: IDDBAS