Conditions / Syndrome
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
info · Syndrome
A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22.
Signs and symptoms
- Short stature
- Hypotonia
- Cataract
- Absent speech
- Global developmental delay
- Severe global developmental delay
- Dolichocephaly
- Hypertelorism
- Gait disturbance
- Downturned corners of mouth