Conditions / Syndrome
Meckel syndrome 12
info · Syndrome
A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
Signs and symptoms
- Microcephaly
- Hypoplasia of the uterus
- Cerebellar hypoplasia
- Arthrogryposis multiplex congenita
- Cerebral hypoplasia
- Intrauterine growth retardation
- Oligohydramnios
- Bilateral renal agenesis
- Sloping forehead
- Wide nasal bridge