Rare Disease Library

X-linked corneal dermoid

Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Cone rod dystrophy-short stature syndrome

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

Corneal dystrophy

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Epithelial basement membrane dystrophy

Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

Lisch epithelial corneal dystrophy

Band-shaped and whorled microcystic dystrophy of the corneal epithelium · LECD

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

Spinocerebellar degeneration-corneal dystrophy syndrome

Der Kaloustian-Jarudi-Khoury syndrome

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

Stromal corneal dystrophy

Subepithelial mucinous corneal dystrophy

SMCD

Syndromic corneal dystrophy

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

X-linked endothelial corneal dystrophy

XECD