Disease - Neurodevelopmental disorder with microcephaly and gray sclerae
- DefinitionAn autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae.
- AcronymNEDMIGS
- Alternative names
- Keywords
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Browse 1 entry- tRNA pseudouridine(38/39) synthase · Gene: PUS3 · Homo sapiens (Human) · EC:5.4.99.45 · 481 amino acids · Evidence at protein level · Annotation score: 5/5