Developmental delay with short stature, dysmorphic features, and sparse hair
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | 459061 | DPH1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR | C4310801 | DPH1 | Causal Pathogenic evidence from ClinVar | 25558065, 26220823 | ClinVar |