Rare Disease Library

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA

Alagille syndrome due to a JAG1 point mutation

Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation

Angelman syndrome due to a point mutation

Kleefstra syndrome due to a point mutation

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies · OXPHOS disease due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

OBSOLETE: OXPHOS disease due to a duplication of mtDNA · OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA

Okihiro syndrome due to a point mutation

Duane-radial ray syndrome due to a point mutation

Silver-Russell syndrome due to a point mutation