Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME | C3542022 | POC1A | Causal Pathogenic evidence from ClinVar | 22440536, 22840363, 22840364, 26336158, 26791357 | ClinVar |
| PTPRQ | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 314394 | POC1A | Causal Pathogenic evidence from ClinVar | - | ClinVar |