Rare Disease Library

Disseminated superficial actinic porokeratosis

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal 22q11.2 microduplication syndrome

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

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Distal 7q11.23 microduplication syndrome

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

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Distal arthrogryposis

Distal arthrogryposis type 1

Digitotalar dysmorphism · DA1

Distal arthrogryposis type 10

DA10 · Plantar flexion contracture

Distal arthrogryposis type 5D

DA5D · Distal arthrogryposis type 5 without ophthalmoparesis

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

DAIPT · Distal arthrogryposis with impaired proprioception and touch

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

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