Rare Disease Library

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 limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

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)

Duane retraction syndrome

DRS · DURS

Duplication of the pituitary gland

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

Eyebrow duplication-syndactyly syndrome

Fibular dimelia-diplopodia syndrome

Leg duplication-mirror foot syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

Meconium aspiration syndrome

MEHMO syndrome

X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

Meigs syndrome

Demons-Meigs syndrome

MEND syndrome

Male EBP disorder with neurological defects

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

MMCAT syndrome

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

Microtriplication 11q24.1 syndrome

Tetrasomy 11q24.1

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Non-distal duplication 10q syndrome

Non-distal trisomy 10q · Non-telomeric trisomy 10q

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

Non-distal duplication 9q syndrome

Non-distal trisomy 9q · Non-telomeric trisomy 9q

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy

Partial duplication of chromosome 1 syndrome

Partial trisomy of chromosome 1

Partial duplication of chromosome 10 syndrome

Partial trisomy of chromosome 10