Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program 0-9/1 ENGLISH

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program







0-9/1



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency - See Hyperprolinemia type 2
• 10p deletion - See Chromosome 10p deletion
• 10p duplication - See Chromosome 10p duplication
• 10p monosomy - See Chromosome 10p deletion
• 10p trisomy - See Chromosome 10p duplication
• 10q deletion - See Chromosome 10q deletion
• 10q duplication - See Chromosome 10q duplication
• 10q monosomy - See Chromosome 10q deletion
• 10q trisomy - See Chromosome 10q duplication
• 10q22.3q23 microdeletion syndrome
• 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of - See Cortisone reductase deficiency
• 11-beta-hydroxylase deficiency
• 11p deletion - See Chromosome 11p deletion
• 11p deletion syndrome - See WAGR syndrome
• 11p duplication - See Chromosome 11p duplication
• 11p monosomy - See Chromosome 11p deletion
• 11p trisomy - See Chromosome 11p duplication
• 11p11.2 deletion - See Potocki-Shaffer syndrome
• 11q deletion - See Chromosome 11q deletion
• 11q duplication - See Chromosome 11q duplication
• 11q monosomy - See Chromosome 11q deletion
• 11q trisomy - See Chromosome 11q duplication
• 12p deletion - See Chromosome 12p deletion
• 12p duplication - See Chromosome 12p duplication
• 12p monosomy - See Chromosome 12p deletion
• 12p trisomy - See Chromosome 12p duplication
• 12q deletion - See Chromosome 12q deletion
• 12q duplication - See Chromosome 12q duplication
• 12q monosomy - See Chromosome 12q deletion
• 12q trisomy - See Chromosome 12q duplication
• 12q14 microdeletion syndrome
• 13q deletion - See Chromosome 13q deletion
• 13q duplication - See Chromosome 13q duplication
• 13q monosomy - See Chromosome 13q deletion
• 13q trisomy - See Chromosome 13q duplication
• 14q deletion - See Chromosome 14q deletion
• 14q duplication - See Chromosome 14q duplication
• 14q monosomy - See Chromosome 14q deletion
• 14q trisomy - See Chromosome 14q duplication
• 14q22q23 microdeletion syndrome - See Frias syndrome
• 14q22-q23 microdeletion syndrome - See Frias syndrome
• 15q deletion - See Chromosome 15q deletion
• 15q duplication - See Chromosome 15q duplication
• 15q monosomy - See Chromosome 15q deletion
• 15q trisomy - See Chromosome 15q duplication
• 15q11.2 BP1-BP2 microdeletion syndrome - See 15q11.2 microdeletion
• 15q11.2 microdeletion
• 15q11.2 microdeletion syndrome - See 15q11.2 microdeletion
• 15q13.3 microdeletion - See 15q13.3 microdeletion syndrome
• 15q13.3 microdeletion syndrome
• 15q13.3 microduplication - See 15q13.3 microduplication syndrome
• 15q13.3 microduplication syndrome
• 15q24 microdeletion syndrome
• 15q25.2 deletion - See Chromosome 15q25.2 microdeletion
• 15q25.2 deletion syndrome - See Chromosome 15q25.2 microdeletion
• 16p deletion - See Chromosome 16p deletion
• 16p duplication - See Chromosome 16p duplication
• 16p monosomy - See Chromosome 16p deletion
• 16p trisomy - See Chromosome 16p duplication
• 16p11.2 deletion syndrome
• 16p11.2 duplication
• 16p11.2 duplication syndrome - See 16p11.2 duplication
• 16p11.2 microduplication - See 16p11.2 duplication
• 16p13.11 microduplication syndrome
• 16p13.3 deletion syndrome - See Chromosome 16p13.3 deletion syndrome
• 16p13.3 duplication - See Chromosome 16p13.3 duplication
• 16p13.3 microduplication syndrome - See Chromosome 16p13.3 duplication
• 16q deletion - See Chromosome 16q deletion
• 16q duplication - See Chromosome 16q duplication
• 16q monosomy - See Chromosome 16q deletion
• 16q trisomy - See Chromosome 16q duplication
• 16q24.3 microdeletion syndrome
• 17 alpha ketosteroid reductase deficiency of testis - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17 alpha KSR deficiency - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17 beta hydroxysteroid dehydrogenase III deficiency - See 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17 beta-hydroxysteroid dehydrogenase type 10 deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 17-alpha-hydroxylase deficiency
• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY - See D-bifunctional protein deficiency
• 17p deletion - See Chromosome 17p deletion
• 17p duplication - See Chromosome 17p duplication
• 17p monosomy - See Chromosome 17p deletion
• 17p trisomy - See Chromosome 17p duplication
• 17p13.1 deletion syndrome - See Chromosome 17p13.1 deletion syndrome
• 17q deletion - See Chromosome 17q deletion
• 17q duplication - See Chromosome 17q duplication
• 17q monosomy - See Chromosome 17q deletion
• 17q trisomy - See Chromosome 17q duplication
• 17q11 microdeletion syndrome - See Chromosome 17q11.2 deletion syndrome
• 17q12 deletion syndrome
• 17q12 duplication
• 17q12 microdeletion syndrome - See 17q12 deletion syndrome
• 17q12 microduplication - See 17q12 duplication
• 17q12 microduplication syndrome - See 17q12 duplication
• 17q12 recurrent deletion syndrome - See 17q12 deletion syndrome
• 17q21.31 deletion syndrome - See Koolen de Vries syndrome
• 17q21.31 microdeletion syndrome - See Koolen de Vries syndrome
• 17q23.1q23.2 microdeletion syndrome
• 17q23.1-q23.2 microdeletion syndrome - See 17q23.1q23.2 microdeletion syndrome
• 18 alpha hydroxylase deficiency - See 18 Hydroxylase deficiency
• 18 Hydroxylase deficiency
• 18 trisomy - See Trisomy 18
• 18p- - See Chromosome 18p deletion
• 18p duplication - See Chromosome 18p duplication
• 18p trisomy - See Chromosome 18p duplication
• 18q duplication - See Chromosome 18q duplication
• 18q partial trisomy - See Chromosome 18q duplication
• 18q trisomy - See Chromosome 18q duplication
• 19p deletion - See Chromosome 19p deletion
• 19p duplication - See Chromosome 19p duplication
• 19p monosomy - See Chromosome 19p deletion
• 19p trisomy - See Chromosome 19p duplication
• 19p13.12 microdeletion syndrome
• 19q deletion - See Chromosome 19q deletion
• 19q duplication - See Chromosome 19q duplication
• 19q monosomy - See Chromosome 19q deletion
• 19q trisomy - See Chromosome 19q duplication
• 1p deletion - See Chromosome 1p deletion
• 1p duplication - See Chromosome 1p duplication
• 1p monosomy - See Chromosome 1p deletion
• 1p trisomy - See Chromosome 1p duplication
• 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
• 1q deletion - See Chromosome 1q deletion
• 1q duplications
• 1q monosomy - See Chromosome 1q deletion
• 1q21.1 microdeletion - See 1q21.1 microdeletion syndrome
• 1q21.1 microdeletion syndrome
• 1q21.1 microduplication syndrome - See Chromosome 1q21.1 duplication syndrome
• 1q41-q42 deletion syndrome - See Chromosome 1q41-q42 deletion syndrome
• 1q41-q42 microdeletion syndrome - See Chromosome 1q41-q42 deletion syndrome
• 1q44 microdeletion syndrome
• 2 alpha ketoglutarate dehydrogenase deficiency - See Alpha-ketoglutarate dehydrogenase deficiency
• 2,4-alpha dienoyl-CoA reductase deficiency - See 2,4-Dienoyl-CoA reductase deficiency
• 2,4-Dienoyl-CoA reductase deficiency
• 20p deletion - See Chromosome 20p deletion
• 20p duplication - See Chromosome 20p duplication
• 20p monosomy - See Chromosome 20p deletion
• 20p trisomy - See Chromosome 20p duplication
• 20p12.3 microdeletion syndrome
• 20q deletion - See Chromosome 20q deletion
• 20q duplication - See Chromosome 20q duplication
• 20q monosomy - See Chromosome 20q deletion
• 20q trisomy - See Chromosome 20q duplication
• 21 hydroxylase deficiency - See 21-hydroxylase deficiency
• 21-hydroxylase deficiency
• 21q deletion - See Chromosome 21q deletion
• 21q duplication - See Chromosome 21q duplication
• 21q monosomy - See Chromosome 21q deletion
• 21q trisomy - See Chromosome 21q duplication
• 22q deletion - See Chromosome 22q deletion
• 22q monosomy - See Chromosome 22q deletion
• 22q11.2 deletion syndrome
• 22q11.2 duplication - See 22q11.2 duplication syndrome
• 22q11.2 duplication syndrome
• 22q11.2 microduplication syndrome - See 22q11.2 duplication syndrome
• 22q13 deletion - See 22q13.3 deletion syndrome
• 22q13.3 deletion syndrome
• 2-HEMA sensitization - See 2-hydroxyethyl methacrylate sensitization
• 2-hydroxyethyl methacrylate sensitization
• 2-Hydroxyglutaric aciduria
• 2M3HBA - See 2-methyl-3-hydroxybutyric aciduria
• 2-methyl-3-hydroxybutyric aciduria
• 2-methyl-3-hydroxybutyricacidemia - See Beta ketothiolase deficiency
• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 2-Methylacetoacetyl CoA thiolase deficiency
• 2-methylbutyric aciduria - See 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 2p deletion - See Chromosome 2p deletion
• 2p duplication - See Chromosome 2p duplication
• 2p monosomy - See Chromosome 2p deletion
• 2p trisomy - See Chromosome 2p duplication
• 2p15p16.1 microdeletion syndrome
• 2p15-p16.1 microdeletion syndrome - See 2p15p16.1 microdeletion syndrome
• 2q deletion - See Chromosome 2q deletion
• 2q duplication - See Chromosome 2q duplication
• 2q monosomy - See Chromosome 2q deletion
• 2q trisomy - See Chromosome 2q duplication
• 2q23.1 microdeletion syndrome
• 2q24 deletion - See Chromosome 2q24 microdeletion syndrome
• 2q24 microdeletion syndrome - See Chromosome 2q24 microdeletion syndrome
• 2q32-q33 microdeletion syndrome - See SATB2-associated syndrome
• 2q32q33 microdeletion syndromes - See SATB2-associated syndrome
• 2q37 deletion syndrome
• 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
• 3 Alpha methylcrotonylglycinuria 1 - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 alpha methylcrotonylglycinuria 2 - See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
• 3 alpha methylglutaconic aciduria type I - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3 alpha methylglutaconic aciduria type IV - See Not otherwise specified 3-MGA-uria type
• 3 alpha methylglutaconic aciduria type V - See 3 methylglutaconic aciduria type V
• 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 Methylcrotonyl-CoA carboxylase deficiency - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 Methylcrotonylglycinuria - See 3 Methylcrotonyl-CoA carboxylase 1 deficiency
• 3 methylglutaconic aciduria type 1 - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3 methylglutaconic aciduria type IV - See Not otherwise specified 3-MGA-uria type
• 3 methylglutaconic aciduria type V
• 3 methylglutaconyl CoA hydratase deficiency - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of - See Congenital bile acid synthesis defect, type 1
• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• 3-alpha methylglutaconic aciduria type III - See OPA3 defect
• 3-beta-HSD deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
• 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency - See Congenital bile acid synthesis defect, type 1
• 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency - See Cholestasis, progressive familial intrahepatic 4
• 3-beta-hydroxysteroid dehydrogenase deficiency
• 3b-hydroxysteroid dehydrogenase deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
• 3C syndrome - See Dandy-Walker like malformation with atrioventricular septal defect
• 3H2MBD deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency - See 2-methyl-3-hydroxybutyric aciduria
• 3-hydroxy-3-methylglutaric aciduria - See HMG CoA lyase deficiency
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency - See HMG CoA lyase deficiency
• 3-hydroxyacyl-CoA dehydrogenase long chain deficiency - See LCHAD deficiency
• 3-Hydroxyisobutyric aciduria
• 3-Hydroxyisobutyryl-CoA hydrolase deficiency - See HIBCH deficiency
• 3-hydroxylacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• 3-ketothiolase deficiency - See Beta ketothiolase deficiency
• 3M syndrome
• 3-M syndrome - See 3M syndrome
• 3M1 - See 3M syndrome
• 3MC syndrome
• 3MCC - See 3-methylcrotonyl-CoA carboxylase deficiency
• 3-MCC deficiency - See 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonylglycinuria - See 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconic aciduria type 5 - See DCMA syndrome
• 3-methylglutaconic aciduria type II - See Barth syndrome
• 3-methylglutaconic aciduria type III - See OPA3 defect
• 3-methylglutaconic aciduria type VI - See MEGDEL syndrome
• 3-methylglutaconic aciduria, type V - See DCMA syndrome
• 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3MG CoA hydratase deficiency - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3-MGCA type I (3-MGCA-1) - See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
• 3-MGCA type IV (3-MGCA-4) (formerly) - See TMEM70 defect
• 3-MGCA type IV (formerly) - See MEGDEL syndrome
• 3-MGCA-4 (formerly) - See MEGDEL syndrome
• 3-MSBN - See 3M syndrome
• 3-oxoacid CoA transferase deficiency - See SCOT deficiency
• 3-oxothiolase deficiency - See Beta ketothiolase deficiency
• 3p deletion - See Chromosome 3p deletion
• 3p duplication - See Chromosome 3p duplication
• 3p monosomy - See Chromosome 3p deletion
• 3p- syndrome - See Chromosome 3p- syndrome
• 3p trisomy - See Chromosome 3p duplication
• 3q deletion - See Chromosome 3q deletion
• 3q monosomy - See Chromosome 3q deletion
• 3q subtelomere deletion syndrome - See 3q29 microdeletion syndrome
• 3q29 deletion - See 3q29 microdeletion syndrome
• 3q29 deletion syndrome - See 3q29 microdeletion syndrome
• 3q29 microdeletion syndrome
• 3qter deletion - See 3q29 microdeletion syndrome
• 4 alpha aminobutyrate transaminase deficiency - See Gamma aminobutyric acid transaminase deficiency
• 4 alpha hydroxy-L-proline oxidase deficiency - See Hydroxyprolinemia
• 45, X Syndrome - See Turner syndrome
• 46, XX gonadal sex reversal - See 46,XX testicular disorder of sex development
• 46, XY CGD - See Swyer syndrome
• 46, XY complete gonadal dysgenesis - See Swyer syndrome
• 46, XY disorders of sexual development
• 46, XY DSD - See 46, XY disorders of sexual development
• 46, XY female - See 46, XY disorders of sexual development
• 46, XY pure gonadal dysgenesis - See Swyer syndrome
• 46,XX gonadal dysgenesis - See 46,XX testicular disorder of sex development
• 46,XX Gonadal dysgenesis epibulbar dermoid
• 46,XX testicular disorder of sex development
• 46,XX testicular DSD - See 46,XX testicular disorder of sex development
• 46,XY disorder of sex development due to LH defects - See Leydig cell hypoplasia
• 46,XY disorder of sex development due to LH resistance or LHB deficiency - See Leydig cell hypoplasia
• 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency - See Leydig cell hypoplasia
• 46,XY DSD due to LH resistance or LHB deficiency - See Leydig cell hypoplasia
• 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency - See Leydig cell hypoplasia
• 47 XXX syndrome
• 47 XXY - See 47, XXY - not a rare disease
• 47, XXY - not a rare disease
• 47, XYY syndrome
• 47,XXY syndrome - See Klinefelter syndrome - not a rare disease
• 47,XYY syndrome - See 47, XYY syndrome
• 48 XXXX - See Tetrasomy X
• 48 XXXX syndrome - See Tetrasomy X
• 48,XXXX syndrome - See Tetrasomy X
• 48,XXXY syndrome
• 48,XXYY Klinefelter syndrome - See 48,XXYY syndrome
• 48,XXYY syndrome
• 48,XXYY variant of Klinefelter's syndrome - See 48,XXYY syndrome
• 48,XYYY
• 49, XXXYY syndrome
• 49,XXXXX syndrome
• 49,XXXXY - See 49,XXXXY syndrome
• 49,XXXXY syndrome
• 4-alpha hydroxyphenylpyruvate dioxygenase deficiency - See Tyrosinemia type 3
• 4-alpha hydroxyphenylpyruvic acid oxidase deficiency - See Tyrosinemia type 3
• 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency - See Hawkinsinuria
• 4H syndrome - See POLR3-Related Leukodystrophy
• 4-hydroxybutyric aciduria - See Succinic semialdehyde dehydrogenase deficiency
• 4-hydroxy-L-proline oxidase deficiency - See Hydroxyprolinemia
• 4-hydroxyphenylacetic aciduria
• 4-hydroxyphenylpyruvate dioxygenase deficiency - See Tyrosinemia type 3
• 4p deletion - See Chromosome 4p deletion
• 4p duplication - See Chromosome 4p duplication
• 4p monosomy - See Chromosome 4p deletion
• 4p syndrome - See Wolf-Hirschhorn syndrome
• 4p- syndrome - See Wolf-Hirschhorn syndrome
• 4p trisomy - See Chromosome 4p duplication
• 4q deletion - See Chromosome 4q deletion
• 4q duplication - See Chromosome 4q duplication
• 4q monosomy - See Chromosome 4q deletion
• 4q trisomy - See Chromosome 4q duplication
• 5,10 alpha methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
• 5,10-alpha-methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
• 5-alpha reductase deficiency
• 5-alpha-oxoprolinase deficiency - See 5-oxoprolinase deficiency
• 5-Aminolevulinic acid dehydratase deficiency porphyria - See Aminolevulinate dehydratase deficiency porphyria
• 5'NT syndrome - See 5-Nucleotidase syndrome
• 5-Nucleotidase syndrome
• 5-oxoprolinase deficiency
• 5-Oxoprolinuria - See Glutathione synthetase deficiency
• 5p deletion - See Chromosome 5p deletion
• 5p deletion syndrome - See Cri du chat syndrome
• 5p duplication - See Chromosome 5p duplication
• 5p minus syndrome - See Cri du chat syndrome
• 5p monosomy - See Chromosome 5p deletion
• 5p- syndrome - See Cri du chat syndrome
• 5p trisomy - See Chromosome 5p duplication
• 5q deletion - See Chromosome 5q deletion
• 5q deletion syndrome - See 5q- syndrome
• 5q minus syndrome - See 5q- syndrome
• 5q monosomy - See Chromosome 5q deletion
• 5q syndrome - See 5q- syndrome
• 5q- syndrome
• 5q14.3 deletion syndrome - See 5q14.3 microdeletion syndrome
• 5q14.3 microdeletion syndrome
• 6-mercaptopurine sensitivity - See Thiopurine S methyltranferase deficiency
• 6p deletion - See Chromosome 6p deletion
• 6p duplication - See Chromosome 6p duplication
• 6p monosomy - See Chromosome 6p deletion
• 6p trisomy - See Chromosome 6p duplication
• 6-pyruvoyl-tetrahydropterin synthase deficiency
• 6q deletion - See Chromosome 6q deletion
• 6q duplication - See Chromosome 6q duplication
• 6q monosomy - See Chromosome 6q deletion
• 6q trisomy - See Chromosome 6q duplication
• 6q25 microdeletion syndrome - See Chromosome 6q25 microdeletion syndrome
• 6th nerve palsy - See Sixth nerve palsy
• 7-Dehydrocholesterol reductase deficiency - See Smith-Lemli-Opitz syndrome
• 7p deletion - See Chromosome 7p deletion
• 7p duplication - See Chromosome 7p duplication
• 7p monosomy - See Chromosome 7p deletion
• 7p trisomy - See Chromosome 7p duplication
• 7q deletion - See Chromosome 7q deletion
• 7q duplication - See Chromosome 7q duplication
• 7q monosomy - See Chromosome 7q deletion
• 7q trisomy - See Chromosome 7q duplication
• 7q11.23 duplication syndrome
• 7q11.23 microduplication syndrome - See 7q11.23 duplication syndrome
• 8p deletion - See Chromosome 8p deletion
• 8p duplication - See Chromosome 8p duplication
• 8p inverted duplication and deletion - See 8p inverted duplication/deletion syndrome
• 8p inverted duplication/deletion syndrome
• 8p monosomy - See Chromosome 8p deletion
• 8p trisomy - See Chromosome 8p duplication
• 8p23.1 deletion - See Chromosome 8p23.1 deletion
• 8p23.1 duplication syndrome
• 8p23.1 microdeletion syndrome - See Chromosome 8p23.1 deletion
• 8q deletion - See Chromosome 8q deletion
• 8q duplication - See Chromosome 8q duplication
• 8q monosomy - See Chromosome 8q deletion
• 8q trisomy - See Chromosome 8q duplication
• 8q12 microduplication syndrome
• 8q22.1 microdeletion syndrome - See Nablus mask-like facial syndrome
• 9p deletion - See Chromosome 9p deletion
• 9p duplication - See Chromosome 9p duplication
• 9p monosomy - See Chromosome 9p deletion
• 9p trisomy - See Chromosome 9p duplication
• 9q deletion - See Chromosome 9q deletion
• 9q duplication - See Chromosome 9q duplication
• 9q monosomy - See Chromosome 9q deletion
• 9q- syndrome - See Kleefstra syndrome
• 9q trisomy - See Chromosome 9q duplication
• 9q34.3 microdeletion syndrome - See Kleefstra syndrome