Disease Term Disease ID Gene Symbol Classification References Source
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES C4539873 DONSON Causal Pathogenic evidence from ClinVar 28191891, 28630177 ClinVar
Microcephaly-short stature-limb abnormalities syndrome 572773 DONSON Causal Pathogenic evidence from ClinVar - ClinVar