Rare Disease Library

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

1q41q42 microdeletion syndrome

Del(1)(q41q42) · Monosomy 1q41q42

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

2-aminoadipic 2-oxoadipic aciduria

Alpha-aminoadipic aciduria

2-hydroxyglutaric aciduria

2-hydroxyglutaric acidemia

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

20q11.2 microduplication syndrome

Dup(20)(q11.2)

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

21q22.11q22.12 microdeletion syndrome

Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12

22q11.2 deletion syndrome

22q11DS · CATCH 22

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2p21 microdeletion syndrome without cystinuria

Del(2)(p21) without cystinuria

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

2q13 microdeletion syndrome

del2q13 syndrome

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

3-hydroxyisobutyric aciduria

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

3-methylglutaconic aciduria

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

3-methylglutaconic aciduria type 4

MGA4

3-methylglutaconic aciduria type 8

MGA8

3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome · MGA9

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

MGA7 · 3-methylglutaconic aciduria type 7

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27