Rare Disease Library

Congenital non-communicating hydrocephalus

Congenital obstructive hydrocephalus

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Congenital patella dislocation

Congenital retinal arteriovenous communication

Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina

Coralliform cataract

Craniofacial anomaly with cataract

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Delayed membranous cranial ossification

Gonzales-del Angel syndrome

Dentocutaneous disease with cataract

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Disorder of catecholamine synthesis

Disorder of urea cycle metabolism and ammonia detoxification

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q

Distal duplication 14q syndrome

Telomeric duplication 14q · Trisomy 14qter

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

Distal duplication 22q syndrome

Distal trisomy 22q · Telomeric duplication 22q

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

Distal duplication 4q syndrome

Distal trisomy 4q · Telomeric duplication 4q

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

Distal duplication 6p syndrome

Distal trisomy 6p · Telomeric duplication 6p

Distal duplication 6q syndrome

Distal trisomy 6q · Telomeric duplication 6q

Distal duplication 7p syndrome

Distal trisomy 7p · Telomeric duplication 7p

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

Distal duplication 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

Distal triplication 15q syndrome

Distal tetrasomy 15q · Tetrasomy 15(q25-qter)

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

Duplication of the esophagus

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

Duplication of urethra

Early onset non-syndromic cataract

Early-onset anterior polar cataract

Early-onset anterior subcapsular cataract

Early-onset lamellar cataract

Early-onset nuclear cataract

Early-onset partial cataract

Early-onset posterior polar cataract

Early-onset posterior subcapsular cataract