Rare Disease Library

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)

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) · OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

Renpenning syndrome

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

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