Conditions / Genetic
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
info · Genetic
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.
Signs and symptoms
- Seizure
- Gastroesophageal reflux
- Cataract
- Microcephaly
- Severe global developmental delay
- Hypotonia
- Renal hypoplasia
- Dysphagia
- Calcinosis
- Poor head control
Also known as: NEDMCR syndrome