Application | Comment | Organism |
---|---|---|
medicine | in a patient with homozygous mutation in ALG9, c.860A > G, i.e. Y287C, prenatally, dysmorphic features, numerous renal cysts and minor cardiac malformations were detected. Postnatally, dysmorphic features include shallow orbits, micrognathia, hypoplastic nipples, talipes equinovarus, lipodystrophy and cutis marmorata | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9H6U8 | - |
- |