Rare Disease Library

Okihiro syndrome due to a point mutation

Duane-radial ray syndrome due to a point mutation

Acute radiation syndrome

Acute radiation sickness

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

Alagille syndrome due to a NOTCH2 point mutation

Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation

Angelman syndrome due to a point mutation

Duane retraction syndrome

DRS · DURS

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Desanto-Shinawi syndrome due to WAC point mutation

Familial clubfoot due to PITX1 point mutation

Hereditary clubfoot due to PITX1 point mutation

Hao-Fountain syndrome due to USP7 mutation

HAFOUS due to USP7 mutation

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Kleefstra syndrome due to a point mutation

Koolen-De Vries syndrome due to a point mutation

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

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation

Okihiro syndrome

Duane-radial ray syndrome

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Phelan-McDermid syndrome due to SHANK3 mutation

Prader-Willi syndrome due to imprinting mutation

Rubinstein-Taybi syndrome due to CREBBP mutations

Silver-Russell syndrome due to a point mutation

SIN3-related intellectual disability syndrome due to a point mutation