Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES | C4479566 | PRUNE1 | Causal Pathogenic evidence from ClinVar | 26539891, 28211990, 28334956, 30556349 | ClinVar |