| Disease ID | Source | Name | Description |
| 617913 | OMIM | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) | An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging. The disease is caused by variants affecting the gene represented in this entry. |