Conditions / Syndrome
Meier-Gorlin syndrome 9
info · Syndrome
A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21.
Signs and symptoms
- Delayed eruption of teeth
- Small scrotum
- Mild intellectual disability
- Decreased total lymphocyte count
- Posteriorly rotated ears
- Joint hypermobility
- Feeding difficulties
- Primary microcephaly
- Pectus excavatum
- Wide distal femoral metaphysis