Conditions / Syndrome
Seckel syndrome 7
info · Syndrome
A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.
Signs and symptoms
- Severe short stature
- Hip dysplasia
- Microcephaly
- Hypoplasia of the uterus
- Delayed skeletal maturation
- Seizure
- Madelung deformity
- Abnormal carpal morphology
- Severe global developmental delay
- Central hypothyroidism
Also known as: SCKL7