Rare Disease Library

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability 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

Hirschsprung disease-intellectual disability syndrome

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

SIN3-related intellectual disability syndrome due to a point mutation

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion