Neurodevelopmental disorder with motor impairment and absent language
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | C4540496 | DHX30 | Causal Pathogenic evidence from ClinVar | 28327206, 29100085 | ClinVar |
| NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | C4693546 | GABBR2 | Causal Pathogenic evidence from ClinVar | 26740508, 28856709, 29369404, 29377213 | ClinVar |