Conditions / Syndrome
Meier-Gorlin syndrome 7
info · Syndrome
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.
Signs and symptoms
- Thin eyebrow
- Craniosynostosis
- Progressive microcephaly
- Microtia
- Short stature
- Decreased body weight
- Aplasia/Hypoplasia of the patella
- Narrow mouth
- Growth delay
- Hypospadias