Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- 10q26 deletion syndrome
- 10qter deletion, see 10q26 deletion syndrome
- 11 beta hydroxylase deficiency, see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- 11b hydroxylase deficiency, see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- 11p deletion syndrome, see WAGR syndrome
- 11p partial monosomy syndrome, see WAGR syndrome
- 11q deletion disorder, see Jacobsen syndrome
- 11q deletion syndrome, see Jacobsen syndrome
- 11q terminal deletion disorder, see Jacobsen syndrome
- 11q- deletion syndrome, see Jacobsen syndrome
- 11q23 deletion disorder, see Jacobsen syndrome
- 15q11-q13 duplication syndrome
- 15q13.3 microdeletion
- 15q13.3 microdeletion syndrome, see 15q13.3 microdeletion
- 15q24 deletion, see 15q24 microdeletion
- 15q24 microdeletion
- 15q24 microdeletion syndrome, see 15q24 microdeletion
- 16p11.2 deletion syndrome
- 16p11.2 duplication
- 16p11.2 duplication syndrome, see 16p11.2 duplication
- 16p11.2 microduplication, see 16p11.2 duplication
- 16p12.1 microdeletion, see 16p12.2 microdeletion
- 16p12.2 microdeletion
- 17 alpha-hydroxylase/17,20-lyase deficiency
- 17-alpha-hydroxylase deficiency, see 17 alpha-hydroxylase/17,20-lyase deficiency
- 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, see 17 alpha-hydroxylase/17,20-lyase deficiency
- 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17-beta hydroxysteroid dehydrogenase III deficiency, see 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17-beta-hydroxysteroid dehydrogenase IV deficiency, see D-bifunctional protein deficiency
- 17-ketosteroid reductase deficiency of testis, see 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17-KSR deficiency, see 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17p- syndrome, see Smith-Magenis syndrome
- 17p11.2 duplication syndrome, see Potocki-Lupski syndrome
- 17p11.2 microduplication syndrome, see Potocki-Lupski syndrome
- 17p11.2 monosomy, see Smith-Magenis syndrome
- 17q12 chromosomal microdeletion, see 17q12 deletion syndrome
- 17q12 deletion syndrome
- 17q12 duplication
- 17q12 duplication syndrome, see 17q12 duplication
- 17q12 microdeletion, see 17q12 deletion syndrome
- 17q12 microduplication, see 17q12 duplication
- 17q12 microduplication syndrome, see 17q12 duplication
- 17q12 recurrent deletion syndrome, see 17q12 deletion syndrome
- 17q12 recurrent duplication, see 17q12 duplication
- 17q21.31 deletion syndrome, see Koolen-de Vries syndrome
- 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome
- 17β-hydroxysteroid dehydrogenase type 10 deficiency, see HSD10 disease
- 18-hydroxylase deficiency, see Corticosterone methyloxidase deficiency
- 18-oxidase deficiency, see Corticosterone methyloxidase deficiency
- 18p isochromosome, see Tetrasomy 18p
- 18p tetrasomy, see Tetrasomy 18p
- 18q deletion syndrome, see Distal 18q deletion syndrome
- 18q deletion syndrome, see Proximal 18q deletion syndrome
- 18q- syndrome, see Distal 18q deletion syndrome
- 18q- syndrome, see Proximal 18q deletion syndrome
- 19p13.13 deletion syndrome
- 19p13.13 microdeletion, see 19p13.13 deletion syndrome
- 19p13.13 microdeletion syndrome, see 19p13.13 deletion syndrome
- 1p36 deletion syndrome
- 1q21.1 contiguous gene deletion, see 1q21.1 microdeletion
- 1q21.1 deletion, see 1q21.1 microdeletion
- 1q21.1 duplication, see 1q21.1 microduplication
- 1q21.1 duplication syndrome, see 1q21.1 microduplication
- 1q21.1 microdeletion
- 1q21.1 microduplication
- 2,8-dihydroxyadenine urolithiasis, see Adenine phosphoribosyltransferase deficiency
- 2,8-dihydroxyadeninuria, see Adenine phosphoribosyltransferase deficiency
- 2-HGA, see 2-hydroxyglutaric aciduria
- 2-hydroxyglutaric aciduria
- 2-MBADD, see Short/branched chain acyl-CoA dehydrogenase deficiency
- 2-MBCD deficiency, see Short/branched chain acyl-CoA dehydrogenase deficiency
- 2-MBG, see Short/branched chain acyl-CoA dehydrogenase deficiency
- 2-methyl-3-hydroxybutyric aciduria, see HSD10 disease
- 2-methyl-3-hydroxybutyricacidemia, see Beta-ketothiolase deficiency
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, see HSD10 disease
- 2-methylacetoacetyl-coenzyme A thiolase deficiency, see Beta-ketothiolase deficiency
- 2-methylbutyryl glycinuria, see Short/branched chain acyl-CoA dehydrogenase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency, see Short/branched chain acyl-CoA dehydrogenase deficiency
- 2-methylbutyryl-coenzyme A dehydrogenase deficiency, see Short/branched chain acyl-CoA dehydrogenase deficiency
- 21-hydroxylase deficiency
- 22q11.2 deletion syndrome
- 22q11.2 duplication
- 22q11.2DS, see 22q11.2 deletion syndrome
- 22q13 deletion syndrome, see 22q13.3 deletion syndrome
- 22q13.3 deletion syndrome
- 2M3HBA, see HSD10 disease
- 2q23.1 microdeletion syndrome, see MBD5-associated neurodevelopmental disorder
- 2q23.1 microduplication syndrome, see MBD5-associated neurodevelopmental disorder
- 2q32 deletion syndrome, see SATB2-associated syndrome
- 2q33.1 microdeletion syndrome, see SATB2-associated syndrome
- 2q37 deletion syndrome
- 2q37 microdeletion syndrome, see 2q37 deletion syndrome
- 3 beta-HSD deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 3 beta-ol dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 3 methylglutaconic aciduria, type II, see Barth syndrome
- 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-alpha-oxothiolase deficiency, see Beta-ketothiolase deficiency
- 3-beta-hydroxysteroid dehydrogenase deficiency
- 3-beta–hydroxysteroid dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, see HSD10 disease
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency, see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-ketothiolase deficiency, see Beta-ketothiolase deficiency
- 3-M syndrome
- 3-MCC, see 3-methylcrotonyl-CoA carboxylase deficiency
- 3-MCC deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylcrotonyl-coenzyme A carboxylase deficiency, see 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylcrotonylglycinuria, see 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria type 2, see Barth syndrome
- 3-methylglutaconic aciduria type 3, see Costeff syndrome
- 3-methylglutaconic aciduria type 7, see CLPB deficiency
- 3-methylglutaconic aciduria type III, see Costeff syndrome
- 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome, see MEGDEL syndrome
- 3-methylglutaconic aciduria type V, see Dilated cardiomyopathy with ataxia syndrome
- 3-methylglutaconic aciduria type VII, see CLPB deficiency
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, see CLPB deficiency
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, see MEGDEL syndrome
- 3-methylglutaconic aciduria, type I, see 3-methylglutaconyl-CoA hydratase deficiency
- 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, see CLPB deficiency
- 3-methylglutaconyl-CoA hydratase deficiency
- 3-MG-CoA-hydratase deficiency, see 3-methylglutaconyl-CoA hydratase deficiency
- 3-MSBN, see 3-M syndrome
- 3-OH 3-CH3 glutaric aciduria, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-OH 3-methyl glutaric aciduria, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-oxoacid CoA transferase deficiency, see Succinyl-CoA:3-ketoacid CoA transferase deficiency
- 3-oxothiolase deficiency, see Beta-ketothiolase deficiency
- 3-PGDH deficiency, see Phosphoglycerate dehydrogenase deficiency
- 3-phosphoglycerate dehydrogenase deficiency, see Phosphoglycerate dehydrogenase deficiency
- 3b-hydroxysteroid dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 3beta-HSDH deficiency, see Congenital bile acid synthesis defect type 1
- 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency, see Congenital bile acid synthesis defect type 1
- 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, see Congenital bile acid synthesis defect type 1
- 3H2MBD deficiency, see HSD10 disease
- 3HMG, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3MC syndrome
- 3MCC, see 3-methylcrotonyl-CoA carboxylase deficiency
- 3p deletion syndrome
- 3p partial monosomy syndrome, see 3p deletion syndrome
- 3p- syndrome, see 3p deletion syndrome
- 3q subtelomere deletion syndrome, see 3q29 microdeletion syndrome
- 3q29 deletion syndrome, see 3q29 microdeletion syndrome
- 3q29 interstitial microduplication, see 3q29 microduplication syndrome
- 3q29 microdeletion syndrome
- 3q29 microduplication, see 3q29 microduplication syndrome
- 3q29 microduplication syndrome
- 3q29 recurrent deletion, see 3q29 microdeletion syndrome
- 3β-HSD deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 3β-HSD deficiency congenital adrenal hyperplasia, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 3β-hydroxysteroid dehydrogenase deficiency, see 3-beta-hydroxysteroid dehydrogenase deficiency
- 4 alpha aminobutyrate transaminase deficiency, see GABA-transaminase deficiency
- 4-hydroxybutyric aciduria, see Succinic semialdehyde dehydrogenase deficiency
- 4-hydroxybutyricaciduria, see Succinic semialdehyde dehydrogenase deficiency
- 45,X, see Turner syndrome
- 46,XX disorder of sex development (DSD) due to placental aromatase deficiency, see Aromatase deficiency
- 46,XX sex reversal, see 46,XX testicular disorder of sex development
- 46,XX testicular disorder of sex development
- 46,XY CGD, see Swyer syndrome
- 46,XY complete gonadal dysgenesis, see Swyer syndrome
- 46,XY disorder of sex development due to LH defects, see Leydig cell hypoplasia
- 46,XY sex reversal, see Swyer syndrome
- 47,XX,+21, see Down syndrome
- 47,XXX, see Triple X syndrome
- 47,XXX syndrome, see Triple X syndrome
- 47,XXY syndrome, see Klinefelter syndrome
- 47,XY,+21, see Down syndrome
- 47,XYY syndrome
- 48,XXXY syndrome
- 48,XXYY syndrome
- 49,XXXXY chromosomal anomaly, see 49,XXXXY syndrome
- 49,XXXXY syndrome
- 4H syndrome, see Pol III-related leukodystrophy
- 4p deletion syndrome, see Wolf-Hirschhorn syndrome
- 4p- syndrome, see Wolf-Hirschhorn syndrome
- 5-alpha reductase deficiency
- 5-oxoprolinemia, see Glutathione synthetase deficiency
- 5-oxoprolinuria, see Glutathione synthetase deficiency
- 5p deletion syndrome, see Cri-du-chat syndrome
- 5p- syndrome, see Cri-du-chat syndrome
- 5q minus syndrome
- 5q SMA, see Spinal muscular atrophy
- 5q- syndrome, see 5q minus syndrome
- 5q31.3 microdeletion syndrome
- 6q24-related transient neonatal diabetes mellitus
- 6q24-TNDM, see 6q24-related transient neonatal diabetes mellitus
- 7-dehydrocholesterol reductase deficiency, see Smith-Lemli-Opitz syndrome
- 7q11.23 duplication syndrome
- 7q11.23 microduplication syndrome, see 7q11.23 duplication syndrome
- 8p11 myeloproliferative syndrome
- 8p11 stem cell leukemia/lymphoma syndrome, see 8p11 myeloproliferative syndrome
- 8p11 stem cell syndrome, see 8p11 myeloproliferative syndrome
- 9q subtelomeric deletion syndrome, see Kleefstra syndrome
- 9q- syndrome, see Kleefstra syndrome
- 9q22 deletion syndrome, see 9q22.3 microdeletion
- 9q22.3 deletion, see 9q22.3 microdeletion
- 9q22.3 microdeletion
- 9q34.3 deletion syndrome, see Kleefstra syndrome
- 9q34.3 microdeletion syndrome, see Kleefstra syndrome

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