Rare Disease Library

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Buntinx-Lormans-Martin syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Fragile X syndrome

FRAXA syndrome · FXS

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome