Microcephaly, short stature, and impaired glucose metabolism
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 | C4014997 | TRMT10A | Causal Pathogenic evidence from ClinVar | 24204302, 25053765, 26297882, 26526202, 26535115 | ClinVar |
| MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 | C4225195 | PPP1R15B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 26159176, 26307080, 27640355 | - |