Conditions / Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
info · Syndrome
A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22.
Signs and symptoms
- Decreased body weight
- Hypertonia
- Short stature
- Flexion contracture
- Seizure
- Alveolar ridge overgrowth
- Failure to thrive
- Brisk reflexes
- Microcephaly
- Absent speech