Rare Disease Library

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

Retinal dystrophy-juvenile cataract-short stature syndrome

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

Cone rod dystrophy-short stature syndrome

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

Juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile cataract-microcornea-renal glycosuria syndrome

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

X-linked corneal dermoid

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