Conditions / Syndrome
Meier-Gorlin syndrome 8
info · Syndrome
A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.
Signs and symptoms
- Decreased body weight
- Unilateral renal hypoplasia
- Narrow mouth
- Thick vermilion border
- Microtia
- Nephroptosis
- Intrauterine growth retardation
- Bilateral cryptorchidism
- Low-set ears
- Micrognathia