Rare Disease Library

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

Desanto-Shinawi syndrome due to WAC point mutation

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

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

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

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Okihiro syndrome due to a point mutation

Duane-radial ray syndrome due to a point mutation

Phelan-McDermid syndrome due to SHANK3 mutation

Prader-Willi syndrome due to imprinting mutation

Silver-Russell syndrome due to a point mutation

SIN3-related intellectual disability syndrome due to a point mutation

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

DESSH · Desanto-Shinawi syndrome