Rare Disease Library

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

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 hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Sorbitol dehydrogenase deficiency

Distal myopathy

Distal muscular dystrophy

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

Distal myopathy with early respiratory muscle involvement

Distal myopathy, Tateyama type

Distal myopathy, Welander type

WDM

Distal myotilinopathy

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Distal renal tubular acidosis with anemia

dRTA with anemia

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

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)