QHerit(TM) 833 Diseases, Female

22861

10 mL Whole blood.

Collection Instructions:
__For Quest Referrals Shipping:
__
__Ship at room temperature in an insulated container by
__overnight delivery Monday through Friday. Samples should
__NOT be shipped on Saturday or the day before or after a
__holiday to ensure viability. During warmer months, we
__recommend shipping with cool packs.
__
__When selecting saliva, the QHerit At Home Collection Kit
__(Test Code 15479) must be ordered with the QHerit test
__panel.
__
__Specimen viability decreases during transit. Send specimen
__to testing lab for viability determination.
__ **DO NOT FREEZE. DO NOT REJECT.**
__Note: Patients gender is required.

2 mL Whole blood

2 mL Saliva

Whole blood: EDTA (lavender-top)
Saliva: QHerit At Home Collection Kit (Test Code 15479)

Whole blood: Room temperature preferred; Refrigerated
_acceptable; Frozen unacceptable
Saliva: Room temperature preferred; Refrigerated
_acceptable; Frozen acceptable

Whole blood
__Room temperature: 7 Days
__Refrigerated: 14 Days
__Frozen: Unacceptable
Saliva
__Room temperature: 14 Days
__Refrigerated: 14 Days
__Frozen: 14 Days

Sample exposed to heat

Sets up 6 days a week.

Reports in 15 to 16 days.

This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 753 Diseases, Male. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.

This test analyzes genetic variants associated with 833 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3), 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2), 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL), 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH), 3M syndrome 1 (CUL7), 3M syndrome 2 (OBSL1), 3M syndrome 3 (CCDC8), 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1), 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2), 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3), 5-alpha-reductase deficiency (SRD5A2), 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS), Aarskog-Scott syndrome (X-linked) (FGD1), ABCA4-related disorders (ABCA4), Abetalipoproteinemia (MTTP), Aceruloplasminemia (CP), Achromatopsia, CNGB3-related (CNGB3), Acrodermatitis enteropathica (SLC39A4), Action myoclonus renal failure syndrome (SCARB2), Acute infantile liver failure (TRMU), ADAMTSL4-related eye disorders (ADAMTSL4), Adenosine deaminase deficiency (ADA), Adenosine kinase deficiency (ADK), Adrenoleukodystrophy, X-linked (ABCD1), Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6), Aicardi-Goutieres syndrome 2 (RNASEH2B), Aicardi-Goutieres syndrome 3 (RNASEH2C), Aicardi-Goutieres syndrome 4 (RNASEH2A), Aicardi-Goutieres syndrome 5 (SAMHD1), Alkaptonuria (HGD), Allan-Herndon-Dudley syndrome (X-linked) (SLC16A2), Alpha-1 antitrypsin deficiency (SERPINA1), Alpha-mannosidosis (MAN2B1), Alpha-thalassemia (HBA1), Alpha-thalassemia intellectual disability syndrome, X-linked (ATRX), Alport syndrome, COL4A3-related (COL4A3), Alport syndrome, COL4A4-related (COL4A4), Alport syndrome, COL4A5-related, X-linked (COL4A5), Alstrom syndrome (ALMS1), Amish infantile epilepsy syndrome (ST3GAL5), Androgen insensitivity syndrome (AR), ANO5-related anoctaminopathy (ANO5), Arginine:glycine amidinotransferase deficiency (GATM), Argininemia (ARG1), Argininosuccinic aciduria (ASL), Aromatase deficiency (CYP19A1), Aromatic L-amino acid decarboxylase deficiency (DDC), Arterial tortuosity syndrome (SLC2A10), Arthrogryposis, mental retardation, and seizures (SLC35A3), Asparagine synthetase deficiency (ASNS), Aspartylglycosaminuria (AGA), Ataxia with isolated vitamin E deficiency (TTPA), Ataxia-telangiectasia (ATM), Ataxia-telangiectasia-like disorder 1 (MRE11), Atransferrinemia (TF), Autoimmune polyglandular syndrome, type 1 (AIRE), Autosomal recessive congenital ichthyosis (TGM1), Autosomal recessive congenital ichthyosis, ALOX12B-related (ALOX12B), Autosomal recessive congenital ichthyosis, ALOXE3-related (ALOXE3), Autosomal recessive congenital ichthyosis, CASP14-related (CASP14), Autosomal recessive congenital ichthyosis, CERS3-related (CERS3), Autosomal recessive congenital ichthyosis, CYP4F22-related (CYP4F22), Autosomal recessive congenital ichthyosis, LIPN-related (LIPN), Autosomal recessive congenital ichthyosis, NIPAL4-related (NIPAL4), Autosomal recessive congenital ichthyosis, PNPLA1-related (PNPLA1), Autosomal recessive congenital ichthyosis, SDR9C7-related (SDR9C7), Autosomal recessive intellectual developmental disorder, type 3 (CC2D1A), Autosomal recessive polycystic kidney disease (PKHD1), Autosomal recessive primary microcephaly 1 (MCPH1), Autosomal recessive spinocerebellar ataxia, type 10 (ANO10), Autosomal recessive woolly hair/hypotrichosis, LPAR6-related (LPAR6), AVPR2-related disorders (AVPR2), Bardet-Biedl syndrome 1 (BBS1), Bardet-Biedl syndrome 10 (BBS10), Bardet-Biedl syndrome 12 (BBS12), Bardet-Biedl syndrome 2 (BBS2), Bardet-Biedl syndrome 3 (ARL6), Bardet-Biedl syndrome 4 (BBS4), Bardet-Biedl syndrome 5 (BBS5), Bardet-Biedl syndrome 6 (MKKS), Bardet-Biedl syndrome 7 (BBS7), Bardet-Biedl syndrome 8 (TTC8), Bardet-Biedl syndrome 9 (BBS9), Bare lymphocyte syndrome type II, RFX5-related (RFX5), Bare lymphocyte syndrome type II, RFXANK-related (RFXANK), Bare lymphocyte syndrome type II, RFXAP-related (RFXAP), Bare lymphocyte syndrome, type II (CIITA), Barth syndrome (TAFAZZIN), Bartter syndrome type 3 (CLCNKB), Bartter syndrome, type 1 (SLC12A1), Bartter syndrome, type 2 (KCNJ1), Bartter syndrome, type 4A (BSND), Berardinelli-Siep congenital lipodystrophy (AGPAT2), Bernard-Soulier syndrome, type A (GP1BA), Bernard-Soulier syndrome, type C (GP9), Beta hemoglobinopathies (HBB), Beta-ketothiolase deficiency (ACAT1), Beta-mannosidosis (MANBA), Beta-ureidopropionase deficiency (UPB1), Bilateral frontoparietal polymicrogyria (ADGRG1), Biotinidase deficiency (BTD), Biotin-thiamine-responsive basal ganglia disease (SLC19A3), Bloom syndrome (BLM), Brittle cornea syndrome 1 (ZNF469), Brittle cornea syndrome 2 (PRDM5), Bruck syndrome, PLOD2-related (PLOD2), Canavan disease (ASPA), Carbamoyl phosphate synthetase I deficiency (CPS1), Carnitine deficiency, systemic primary (SLC22A5), Carnitine palmitoyltransferase I deficiency (CPT1A), Carnitine palmitoyltransferase II deficiency (CPT2), Carnitine-acylcarnitine translocase deficiency (SLC25A20), Carpenter syndrome (RAB23), Carpenter syndrome, MEGF8-related (MEGF8), Cartilage-hair hypoplasia (RMRP), Catecholaminergic polymorphic ventricular tachycardia, TRDN-related (TRDN), Catecholaminergic polymorphic ventricular tachycardia, type 2 (CASQ2), CD59-mediated hemolytic anemia (CD59), CEP152-related disorders (CEP152), Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome (SNAP29), Cerebral folate transport deficiency (FOLR1), Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6), Cerebrotendinous xanthomatosis (CYP27A1), Charcot-Marie-Tooth disease type 4B1 (MTMR2), Charcot-Marie-Tooth disease type 4C (SH3TC2), Charcot-Marie-Tooth disease, GDAP1-related (GDAP1), Charcot-Marie-Tooth disease, neuromyotonia and axonal neuropathy (HINT1), Charcot-Marie-Tooth disease, type 1X (GJB1), Charcot-Marie-Tooth disease, type 4D (NDRG1), Chediak-Higashi syndrome (LYST), Choreoacanthocytosis (VPS13A), Choroideremia, X-linked (CHM), Chronic granulomatous disease 2 (NCF2), Chronic granulomatous disease 4 (CYBA), Chronic granulomatous disease, NCF4-related (NCF4), Chronic granulomatous disease, X-linked (CYBB), Chronic intestinal pseudoobstruction, ERBB3-related (ERBB3), Ciliopathies, CFAP418-related (CFAP418), Ciliopathies, IFT140-related (IFT140), Ciliopathies, RPGRIP1L-related (RPGRIP1L), Ciliopathies, SDCCAG8-related (SDCCAG8), Ciliopathies, TCTN1-related (TCTN1), Ciliopathies, TCTN2-related (TCTN2), Ciliopathies, TCTN3-related (TCTN3), Ciliopathies, TMEM138-related (TMEM138), Ciliopathies, TMEM231-related (TMEM231), Citrin deficiency / Citrullinemia, type II (SLC25A13), Citrullinemia, type I (ASS1), CLN13 disease (CTSF), COASY-related conditions (COASY), Cockayne syndrome, type A (ERCC8), Cohen syndrome (VPS13B), COL11A2-related disorders (COL11A2), Cold-induced sweating syndrome 1 (CRLF1), Cold-induced sweating syndrome 2 (CLCF1), Combined factor V and factor VIII deficiency, LMAN1-related (LMAN1), Combined immunodeficiency and megaloblastic anemia, MTHFD1-related (MTHFD1), Combined immunodeficiency, CD3G-related (CD3G), Combined immunodeficiency, DOCK8-related (DOCK8), Combined immunodeficiency, IL2RA-related (IL2RA), Combined immunodeficiency, LCK-related (LCK), Combined immunodeficiency, MALT1-related (MALT1), Combined immunodeficiency, STK4-related (STK4), Combined immunodeficiency, ZAP70-related (ZAP70), Combined malonic and methylmalonic aciduria (ACSF3), Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC), Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC), Combined or isolated pituitary hormone deficiency, type 1 (POU1F1), Combined oxidative phosphorylation deficiency 1 (GFM1), Combined oxidative phosphorylation deficiency 3 (TSFM), Combined oxidative phosphorylation deficiency 6 (AIFM1), Combined pituitary hormone deficiency, type 2 (PROP1), Combined pituitary hormone deficiency, type 3 (LHX3), Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1), Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1), Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2), Congenital adrenal insufficiency, CYP11A1-related (CYP11A1), Congenital amegakaryocytic thrombocytopenia (MPL), Congenital arthrogryposis, PIP5K1C-related (PIP5K1C), Congenital bile acid synthesis defect 2 (AKR1D1), Congenital disorder of deglycosylation, type 1 (NGLY1), Congenital disorder of glycosylation, type Ia (PMM2), Congenital disorder of glycosylation, type Ib (MPI), Congenital disorder of glycosylation, type Ic (ALG6), Congenital disorder of glycosylation, type Ik (ALG1), Congenital dyserythropoietic anemia type I, CDAN1-related (CDAN1), Congenital dyserythropoietic anemia, type II (SEC23B), Congenital generalized lipodystrophy type 4 (CAVIN1), Congenital hydrocephalus 1 (CCDC88C), Congenital hypothyroidism, TSHB-related (TSHB), Congenital hypothyroidism, TSHR-related (TSHR), Congenital ichthyosis, ABCA12-related (ABCA12), Congenital insensitivity to pain with anhidrosis (NTRK1), Congenital isolated adrenocorticotropic hormone deficiency (TBX19), Congenital myasthenic syndrome, CHAT-related (CHAT), Congenital myasthenic syndrome, CHRNE-related (CHRNE), Congenital myasthenic syndrome, COLQ-related (COLQ), Congenital myasthenic syndrome, DOK7-related (DOK7), Congenital myasthenic syndrome, GFPT1-related (GFPT1), Congenital myasthenic syndrome, MUSK-related (MUSK), Congenital myasthenic syndrome, RAPSN-related (RAPSN), Congenital neutropenia, HAX1-related (HAX1), Congenital secretory chloride diarrhea 1 (SLC26A3), COQ4-related conditions (COQ4), Corneal dystrophy and perceptive deafness syndrome (SLC4A11), Cortical dysplasia-focal epilepsy syndrome (CNTNAP2), Corticosterone methyloxidase deficiency (CYP11B2), CRB1-related retinal dystrophies (CRB1), Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8), Crigler-Najjar syndrome (UGT1A1), CTSC-related disorders (CTSC), Cutis laxa, ATP6V0A2-related (ATP6V0A2), Cutis laxa, ATP6V1E1-related (ATP6V1E1), Cutis laxa, EFEMP2-related (EFEMP2), Cutis laxa, LTBP4-related (LTBP4), Cutis laxa, PYCR1-related (PYCR1), CYP7B1-related disorders (CYP7B1), Cystic fibrosis (CFTR), Cystinosis (CTNS), Cystinuria type A (SLC3A1), Cystinuria type B (SLC7A9), Cytochrome P450 oxidoreductase deficiency (POR), Danon disease (X-linked) (LAMP2), D-bifunctional protein deficiency (HSD17B4), DCX-related disorders (DCX), Dent disease (CLCN5), Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 (DGUOK), Desbuquois dysplasia, type I (CANT1), Desmosterolosis (DHCR24), Developmental and epileptic encephalopathy 35 (ITPA), Developmental and epileptic encephalopathy 36 (ALG13), Developmental and epileptic encephalopathy 50 (CAD), DGAT1 deficiency (DGAT1), Diaphanospondylodysostosis (BMPER), Dihydrolipoamide dehydrogenase deficiency (DLD), Dihydropteridine reductase (DHPR) deficiency (QDPR), Dihydropyrimidine dehydrogenase deficiency (DPYD), DOLK-congenital disorder of glycosylation (DOLK), Donnai-Barrow syndrome (LRP2), Dubin-Johnson syndrome (ABCC2), Duchenne/Becker muscular dystrophy, X-linked (DMD), Dyskeratosis congenita and related telomere biology disorders, CTC1-related (CTC1), Dyskeratosis congenita spectrum disorders (TERT), Dyskeratosis congenita, RTEL1-related (RTEL1), Dyskeratosis congenita, X-linked (DKC1), Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1), Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (TBCD), Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2), Ellis-van Creveld syndrome (EVC), Ellis-van Creveld syndrome (EVC2), Emery-Dreifuss muscular dystrophy, X-linked (EMD), Enhanced S-cone syndrome (NR2E3), EPG5-related disorder (EPG5), ERCC2-related conditions (ERCC2), ERCC3-related conditions (ERCC3), ERCC4-related conditions (ERCC4), ERCC5-related conditions (ERCC5), Ethylmalonic encephalopathy (ETHE1), Fabry disease, X-linked (GLA), Factor II deficiency / Prothrombin deficiency (F2), Factor IX deficiency / Hemophilia B (F9), Factor V deficiency (F5), Factor VII deficiency (F7), Factor XI deficiency / Hemophilia C (F11), Factory VIII deficiency / Hemophilia A (F8), Familial dysautonomia (ELP1), Familial hemophagocytic lymphohistiocytosis 2 (PRF1), Familial hemophagocytic lymphohistiocytosis 3 (UNC13D), Familial hemophagocytic lymphohistiocytosis 4 (STX11), Familial hemophagocytic lymphohistiocytosis 5 (STXBP2), Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1), Familial hypercholesterolemia, LDLR-related (LDLR), Familial hyperinsulinism, ABCC8-related (ABCC8), Familial hyperinsulinism, KCNJ11-related (KCNJ11), Familial Mediterranean fever (MEFV), Fanconi anemia, complementation group A (FANCA), Fanconi anemia, complementation group B (FANCB), Fanconi anemia, complementation group C (FANCC), Fanconi anemia, complementation group D2 (FANCD2), Fanconi anemia, complementation group E (FANCE), Fanconi anemia, complementation group F (FANCF), Fanconi anemia, complementation group G (FANCG), Fanconi anemia, complementation group I (FANCI), Fanconi anemia, complementation group J (BRIP1), Fanconi anemia, complementation group L (FANCL), Fanconi-Bickel syndrome (SLC2A2), Farber lipogranulomatosis (ASAH1), Fatty acid hydroxylase-associated neurodegeneration (FA2H), FBXL4-related mitochondrial DNA depletion syndrome, encephalomyopathic form (FBXL4), FHL1-related disorders (FHL1), Formiminoglutamic aciduria (FTCD), Foveal hypoplasia 2 (SLC38A8), Foveal hypoplasia, GPR143-related (X-linked) (GPR143), Fragile X syndrome (FMR1), Fragile XE syndrome (AFF2), Fraser syndrome, type 1 (FRAS1), Fraser syndrome, type 2 (FREM2), Fraser syndrome, type 3 (GRIP1), Free sialic acid storage disorders (SLC17A5), Friedreich ataxia (FXN), Fructose-1,6-bisphosphatase deficiency (FBP1), Fucosidosis (FUCA1), Fukuyama congenital muscular dystrophy (FKTN), Fumarase deficiency (FH), G6PC3 deficiency (G6PC3), GABA-transaminase deficiency (ABAT), Galactosemia (GALT), Galactosemia, type II / Galactokinase deficiency (GALK1), Galactosemia, type III / Galactose epimerase deficiency (GALE), Galactosialidosis (CTSA), Gastrointestinal defects and immunodeficiency syndrome 1 (TTC7A), Gaucher disease (GBA), GCH1-related disorders (GCH1), GDF5-related disorders (GDF5), Geroderma osteodysplastica (GORAB), Gitelman syndrome (SLC12A3), Glanzmann thrombasthenia, ITGA2B-related (ITGA2B), GLB1-related disorders (GLB1), Glucose-6-phosphate dehydrogenase deficiency (G6PD), Glutaric acidemia, type I (GCDH), Glutathione synthetase deficiency (GSS), Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC), Glycine encephalopathy, AMT-related (AMT), Glycogen storage disease type 0 (GYS2), Glycogen storage disease type IXa (X-linked) (PHKA2), Glycogen storage disease type IXd (X-linked) (PHKA1), Glycogen storage disease type VI (PYGL), Glycogen storage disease, type Ia (G6PC1), Glycogen storage disease, type Ib / IIw (SLC37A4), Glycogen storage disease, type II / Pompe disease (GAA), Glycogen storage disease, type III (AGL), Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1), Glycogen storage disease, type IXb (PHKB), Glycogen storage disease, type IXc (PHKG2), Glycogen storage disease, type V (PYGM), Glycogen storage disease, type VII (PFKM), GNE myopathy (GNE), GRACILE syndrome (BCS1L), Gray platelet syndrome (NBEAL2), Guanidinoacetate methyltransferase deficiency (GAMT), Hartnup disease (SLC6A19), Heme oxygenase 1 deficiency (HMOX1), Hepatic veno-occlusive disease with immunodeficiency (SP110), Hereditary distal renal tubular acidosis, ATP6V0A4-related (ATP6V0A4), Hereditary folate malabsorption (SLC46A1), Hereditary fructose intolerance (ALDOB), Hereditary hemochromatosis, type 2 (HJV), Hereditary hemochromatosis, type 2B (HAMP), Hereditary hemochromatosis, type 3 (TFR2), Hereditary hypophosphatemic rickets with hypercalciuria (SLC34A3), Hereditary spherocytosis, EPB42-related (EPB42), Hermansky-Pudlak syndrome, AP3D1-related (AP3D1), Hermansky-Pudlak syndrome, DTNBP1-related (DTNBP1), Hermansky-Pudlak syndrome, type 1 (HPS1), Hermansky-Pudlak syndrome, type 2 (AP3B1), Hermansky-Pudlak syndrome, type 3 (HPS3), Hermansky-Pudlak syndrome, type 4 (HPS4), Hermansky-Pudlak syndrome, type 5 (HPS5), Hermansky-Pudlak syndrome, type 6 (HPS6), Hermansky-Pudlak syndrome, type 8 (BLOC1S3), Hermansky-Pudlak syndrome, type 9 (BLOC1S6), HMGCS2 deficiency (HMGCS2), Holocarboxylase synthetase deficiency (HLCS), Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR), Homocystinuria, CBS-related (CBS), Homocystinuria, type cblE (MTRR), Homocystinuria-megaloblastic anemia, cblG type (MTR), HPRT1-related disorders (HPRT1), HSD10 disease (HSD17B10), HSD3B7 deficiency (HSD3B7), HUPRA syndrome (SARS2), Hyaline fibromatosis syndrome (ANTXR2), Hydrolethalus syndrome (HYLS1), Hyper IgM syndrome type 2 (AICDA), Hyper IgM syndrome type 5 (UNG), Hyper-IgM syndrome, type 3 (CD40), Hyperphosphatemic familial tumoral calcinosis (GALNT3), Hyperprolinemia type II (ALDH4A1), Hypohidrotic ectodermal dysplasia, X-linked (EDA), Hypomagnesemia with secondary hypocalcemia (TRPM6), Hypomyelinating leukodystrophy 12 (VPS11), Hypomyelinating leukodystrophy 3 (AIMP1), Hypomyelinating leukodystrophy 5 (HYCC1), Hypophosphatasia (ALPL), Ichthyosis prematurity syndrome (SLC27A4), IGHMBP2-related disorders (IGHMBP2), IGSF1 deficiency (X-linked) (IGSF1), Imerslund-Grsbeck syndrome 2 (AMN), Immunodeficiency, CD8A-related (CD8A), Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B), Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24), Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (CDCA7), Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (HELLS), Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3), Infantile cerebral and cerebellar atrophy (MED17), Infantile liver failure syndrome type 1 (LARS1), Intellectual disability, AP1S2-related (X-linked) (AP1S2), Intellectual disability, BRWD3-related (X-linked) (BRWD3), Intellectual disability, CRADD-related (CRADD), Intellectual disability, CUL4B-related (X-linked) (CUL4B), Intellectual disability, DLG3-related (X-linked) (DLG3), Intellectual disability, FTSJ1-related (X-linked) (FTSJ1), Intellectual disability, IL1RAPL1-related (X-linked) (IL1RAPL1), Intellectual disability, KDM5C-related (X-linked) (KDM5C), Intellectual disability, NONO-related (X-linked) (NONO), Intellectual disability, OPHN1-related (X-linked) (OPHN1), Intellectual disability, PAK3-related (X-linked) (PAK3), Intellectual disability, PHF8-related (X-linked) (PHF8), Intellectual disability, RPS6KA3-related (X-linked) (RPS6KA3), Intellectual disability, SYN1-related (X-linked) (SYN1), Intellectual disability, UPF3B-related (X-linked) (UPF3B), Intellectual disability, ZDHHC9-related (X-linked) (ZDHHC9), Intellectual disability, ZNF711-related (X-linked) (ZNF711), Isolated congenital hypothyroidism, TRHR-related (TRHR), Isolated GnRH deficiency, GNRHR-related (GNRHR), Isolated growth hormone deficiency type IV (GHRHR), Isolated sulfite oxidase deficiency (SUOX), Isovaleric acidemia (IVD), ITGB3-related disorders (ITGB3), Johanson-Blizzard syndrome (UBR1), Joubert syndrome 1 (INPP5E), Joubert syndrome 15 (CEP41), Joubert syndrome 17 (CPLANE1), Joubert syndrome 2 (TMEM216), Joubert syndrome 21 (CSPP1), Joubert syndrome 25 (CEP104), Joubert syndrome 27 (B9D1), Joubert syndrome 3 (AHI1), Joubert syndrome 31 (CEP120), Joubert syndrome 34 (B9D2), Joubert syndrome 8 (ARL13B), Joubert syndrome 9 (CC2D2A), Joubert syndrome, TMEM237-related (TMEM237), Junctional epidermolysis bullosa, COL17A1-related (COL17A1), Junctional epidermolysis bullosa, ITGA6-related (ITGA6), Junctional epidermolysis bullosa, ITGB4-related (ITGB4), Junctional epidermolysis bullosa, LAMA3-related (LAMA3), Junctional epidermolysis bullosa, LAMB3-related (LAMB3), Junctional epidermolysis bullosa, LAMC2-related (LAMC2), Juvenile retinoschisis, X-linked (RS1), Kohlschutter-Tonz syndrome (ROGDI), Krabbe disease (GALC), Kufor-Rakeb syndrome (ATP13A2), L1 syndrome (L1CAM), LAMA2 muscular dystrophy (LAMA2), Laron syndrome (GHR), Leber congenital amaurosis 1 (GUCY2D), Leber congenital amaurosis 13 (RDH12), Leber congenital amaurosis 2 (RPE65), Leber congenital amaurosis 4 (AIPL1), Leber congenital amaurosis 5 (LCA5), Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290), Lethal congenital contracture syndrome 1 (GLE1), Leukoencephalopathy with vanishing white matter (EIF2B5), Leukoencephalopathy with vanishing white matter 1 (EIF2B1), Leukoencephalopathy with vanishing white matter 2 (EIF2B2), Leukoencephalopathy with vanishing white matter 3 (EIF2B3), Leukoencephalopathy with vanishing white matter 4 (EIF2B4), Leydig cell hypoplasia (LHCGR), LIG4 syndrome (LIG4), Limb-girdle muscular dystrophy R19 (TRAPPC11), Limb-girdle muscular dystrophy, type 2A (CAPN3), Limb-girdle muscular dystrophy, type 2B (DYSF), Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP), Limb-girdle muscular dystrophy, type 3 (SGCA), Limb-girdle muscular dystrophy, type 4 (SGCB), Limb-girdle muscular dystrophy, type 5 (SGCG), Limb-girdle muscular dystrophy, type 6 (SGCD), Lipoid congenital adrenal hyperplasia (STAR), Lipoprotein lipase deficiency (LPL), Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA), Lowe syndrome, X-linked (OCRL), LRAT-related disorders (LRAT), Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3), Lysinuric protein intolerance (SLC7A7), Lysosomal acid lipase deficiency (LIPA), Macular corneal dystrophy (CHST6), Malignant infantile osteopetrosis, SNX10-related (SNX10), Malignant infantile osteopetrosis, TNFSF11-related (TNFSF11), Malonyl-CoA decarboxylase deficiency (MLYCD), Maple syrup urine disease, type 1A (BCKDHA), Maple syrup urine disease, type 1B (BCKDHB), Maple syrup urine disease, type 2 (DBT), MECR-related neurologic disorder (MECR), Medium chain acyl-CoA dehydrogenase deficiency (ACADM), MEDNIK syndrome (AP1S1), Megalencephalic leukoencephalopathy with subcortical cysts (MLC1), Menkes disease (ATP7A), Metachromatic leukodystrophy due to saposin B deficiency (PSAP), Metachromatic leukodystrophy, ARSA-related (ARSA), Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (CWC27), Methionine adenosyltransferase I/III deficiency (MAT1A), Methylmalonic aciduria and homocystinuria type cblJ (ABCD4), Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1), Methylmalonic aciduria and homocystinuria, cblX type (HCFC1), Methylmalonic aciduria, MMAA-related (MMAA), Methylmalonic aciduria, MMAB-related (MMAB), Methylmalonic aciduria, MMUT-related (MMUT), Methylmalonyl-CoA epimerase deficiency (MCEE), Mevalonic aciduria / Hyper-IgD syndrome (MVK), Microcephalic osteodysplastic primordial dwarfism, type II (PCNT), Microphthalmia/anophthalmia, RAX-related (RAX), Micropthalmia / Anopthalmia (VSX2), Mitochondrial complex I deficiency nuclear type 14 (NDUFA11), Mitochondrial complex I deficiency, ACAD9-related (ACAD9), Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4), Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2), Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5), Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6), Mitochondrial complex I deficiency, nuclear type 19 (FOXRED1), Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7), Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1), Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6), Mitochondrial complex IV deficiency nuclear type 11 (COX20), Mitochondrial complex IV deficiency nuclear type 17 (COA8), Mitochondrial complex IV deficiency nuclear type 3 (COX10), Mitochondrial complex IV deficiency nuclear type 4 (SCO1), Mitochondrial complex IV deficiency nuclear type 7 (COX6B1), Mitochondrial complex IV deficiency, nuclear type 12 (PET100), Mitochondrial complex IV deficiency, nuclear type 2 (SCO2), Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC), Mitochondrial complex IV deficiency, nuclear type 6 (COX15), Mitochondrial complex V deficiency nuclear type 2 (TMEM70), Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP), Mitochondrial membrane protein-associated neurodegeneration (C19orf12), Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB), MKS1-related disorders (MKS1), Molybdenum cofactor deficiency of complementation group A (MOCS1), Molybdenum cofactor deficiency of complementation group B (MOCS2), Molybdenum cofactor deficiency type C (GPHN), MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17), Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB), Mucolipidosis III gamma (GNPTG), Mucolipidosis, type IV (MCOLN1), Mucopolysaccharidosis, type I / Hurler syndrome (IDUA), Mucopolysaccharidosis, type II / Hunter syndrome (IDS), Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH), Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU), Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT), Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS), Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS), Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1), Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB), Mucopolysaccharidosis, type VII / Sly syndrome (GUSB), Mulibrey nanism (TRIM37), Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA), Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB), Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH), Multiple pterygium syndrome, lethal type (CHRNG), Multiple sulfatase deficiency (SUMF1), Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1), Muscular dystrophy-dystroglycanopathy, type A, 10 (RXYLT1), Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2), Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1), Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1), Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA), Myopathy, lactic acidosis, and sideroblastic anemia (PUS1), Myotonia congenita (CLCN1), N-acetylglutamate synthase deficiency (NAGS), NBAS-related conditions (NBAS), Nemaline myopathy 2 (NEB), Neonatal primary hyperparathyrodism (CASR), Nephrogenic diabetes insipidus (AQP2), Nephronophthisis 2 (INVS), Netherton syndrome (SPINK5), Neuronal ceroid lipofuscinosis, CLN3-related (CLN3), Neuronal ceroid lipofuscinosis, CLN5-related (CLN5), Neuronal ceroid lipofuscinosis, CLN6-related (CLN6), Neuronal ceroid lipofuscinosis, CLN8-related (CLN8), Neuronal ceroid lipofuscinosis, CTSD-related (CTSD), Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8), Neuronal ceroid lipofuscinosis, PPT1-related (PPT1), Neuronal ceroid lipofuscinosis, TPP1-related (TPP1), Niemann-Pick disease, type C1 (NPC1), Niemann-Pick disease, type C2 (NPC2), Niemann-Pick disease, types A/B (SMPD1), Nijmegen breakage syndrome (NBN), Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2), Nonsyndromic hearing loss and deafness (DFNB) 22 (OTOA), Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A), Nonsyndromic hearing loss and deafness (DFNB) 59 (PJVK), Nonsyndromic hearing loss and deafness (DFNB) 7 (TMC1), Nonsyndromic hearing loss and deafness (DFNB) 76 (SYNE4), Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1), Nonsyndromic hearing loss and deafness (DFNB) 8 (TMPRSS3), Nonsyndromic hearing loss and deafness (DFNB) 9 (OTOF), Nonsyndromic hearing loss, POU3F4-related (X-linked) (POU3F4), Normophosphatemic familial tumoral calcinosis (SAMD9), NPHP1 nephronophthisis-related ciliopathies (NPHP1), NPHP3 nephronophthisis-related ciliopathies (NPHP3), NPHP4 nephronophthisis-related ciliopathies (NPHP4), Oculocutaneous albinism, type I (TYR), Oculocutaneous albinism, type II (OCA2), Oculocutaneous albinism, type III (TYRP1), Oculocutaneous albinism, type IV (SLC45A2), Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A), Omenn syndrome (DCLRE1C), Ornithine aminotransferase deficiency (OAT), Ornithine transcarbamylase deficiency, X-linked (OTC), Ornithine translocase deficiency (SLC25A15), Orofaciodigital syndrome, type XIV (C2CD3), Osteogenesis imperfecta type IX (PPIB), Osteogenesis imperfecta type VI (SERPINF1), Osteogenesis imperfecta type XIV (TMEM38B), Osteogenesis imperfecta type XV (WNT1), Osteogenesis imperfecta, type VII (CRTAP), Osteogenesis imperfecta, type VIII (P3H1), Osteogenesis imperfecta, type XI (FKBP10), Osteogenesis imperfecta, type XIII (BMP1), Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1), Osteopetrosis, OSTM1-related (OSTM1), Pantothenate kinase-associated neurodegeneration (PANK2), Parkinson disease 15 (FBXO7), Pendred syndrome (SLC26A4), Perlman syndrome (DIS3L2), Peroxisomal acyl-CoA oxidase deficiency (ACOX1), Peroxisome biogenesis disorder-Zellweger spectrum disorder, PEX11B-related (PEX11B), Peroxisome biogenesis disorder-Zellweger spectrum disorder, PEX14-related (PEX14), Peroxisome biogenesis disorder-Zellweger spectrum disorder, PEX19-related (PEX19), Peroxisome biogenesis disorder-Zellweger spectrum disorder, PEX3-related (PEX3), Persistent Mllerian duct syndrome, AMHR2-related (AMHR2), Persistent Mllerian duct syndrome, AMH-related (AMH), PGK1 deficiency (X-linked) (PGK1), PGM3-congenital disorder of glycosylation / Immunodeficiency 23 (PGM3), Phenylalanine hydroxylase deficiency (PAH), Phosphoglycerate dehydrogenase deficiency (PHGDH), PIGN-related disorders (PIGN), PLA2G6-associated neurodegeneration (PLA2G6), PLEKHG5-related disorders (PLEKHG5), PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1), PLP1-related disorders (PLP1), POLG-related disorders (POLG), POLR1C-related conditions (POLR1C), Pontocerebellar hypoplasia, AMPD2-related (AMPD2), Pontocerebellar hypoplasia, CHMP1A-related (CHMP1A), Pontocerebellar hypoplasia, CLP1-related (CLP1), Pontocerebellar hypoplasia, TSEN34-related (TSEN34), Pontocerebellar hypoplasia, type 1A (VRK1), Pontocerebellar hypoplasia, type 1B (EXOSC3), Pontocerebellar hypoplasia, type 2B (TSEN2), Pontocerebellar hypoplasia, type 2E (VPS53), Pontocerebellar hypoplasia, type 6 (RARS2), Pontocerebellar hypoplasia, types 4 and 2A (TSEN54), Primary ciliary dyskinesia, CCDC103-related (CCDC103), Primary ciliary dyskinesia, CCDC39-related (CCDC39), Primary ciliary dyskinesia, DNAH11-related (DNAH11), Primary ciliary dyskinesia, DNAH5-related (DNAH5), Primary ciliary dyskinesia, DNAI1-related (DNAI1), Primary ciliary dyskinesia, DNAI2-related (DNAI2), Primary ciliary dyskinesia, DNAL1-related (DNAL1), Primary ciliary dyskinesia, ODAD3-related (ODAD3), Primary ciliary dyskinesia, RSPH9-related (RSPH9), Primary congenital glaucoma (CYP1B1), Primary hyperoxaluria, type I (AGXT), Primary hyperoxaluria, type II (GRHPR), Primary hyperoxaluria, type III (HOGA1), Primary microcephaly type 20 (KIF14), Progressive cerebello-cerebral atrophy (SEPSECS), Progressive familial intrahepatic cholestasis 1 and benign familial intrahepatic cholestasis 1 (ATP8B1), Progressive familial intrahepatic cholestasis 3 (ABCB4), Progressive familial intrahepatic cholestasis 4 (TJP2), Progressive familial intrahepatic cholestastasis, type 2 (ABCB11), Progressive myoclonic epilepsy type 1B (PRICKLE1), Progressive myoclonic epilepsy type 3 (KCTD7), Progressive pseudorheumatoid dysplasia (CCN6), Prolidase deficiency (PEPD), Propionic acidemia, PCCA-related (PCCA), Propionic acidemia, PCCB-related (PCCB), PRPS1-related disorders (PRPS1), Pseudocholinesterase deficiency (BCHE), Pseudoxanthoma elasticum (ABCC6), Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency (PCBD1), Purine nucleoside phosphorylase deficiency (PNP), Pycnodysostosis (CTSK), Pyridoxamine 5'-phosphate oxidase deficiency (PNPO), Pyridoxine-dependent epilepsy (ALDH7A1), Pyruvate carboxylase deficiency (PC), Pyruvate dehydrogenase complex deficiency, DLAT-related (DLAT), Pyruvate dehydrogenase complex deficiency, PDHX-related (PDHX), Pyruvate dehydrogenase complex deficiency, PDP1-related (PDP1), Pyruvate dehydrogenase E1-alpha deficiency (PDHA1), Pyruvate dehydrogenase E1-beta deficiency (PDHB), Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2), Refsum disease (PHYH), Renal tubular acidosis (SLC4A4), Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1), Renpenning syndrome (X-linked) (PQBP1), Reticular dysgenesis (AK2), Retinal dystrophy, CNGA3-related (CNGA3), Retinal dystrophy, NDP-related (X-linked) (NDP), Retinal dystrophy, RD3-related (RD3), Retinal dystrophy, RDH5-related (RDH5), Retinal dystrophy, RPGRIP1-related (RPGRIP1), Retinal dystrophy, SAG-related (SAG), Retinal dystrophy, SPATA7-related (SPATA7), Retinitis pigmentosa 2 (RP2), Retinitis pigmentosa 25 (EYS), Retinitis pigmentosa 26 (CERKL), Retinitis pigmentosa 28 (FAM161A), Retinitis pigmentosa 3 (RPGR), Retinitis pigmentosa 36 (PRCD), Retinitis pigmentosa 43 (PDE6A), Retinitis pigmentosa 45 (CNGB1), Retinitis pigmentosa 46 (IDH3B), Retinitis pigmentosa 49 (CNGA1), Retinitis pigmentosa 59 (DHDDS), Retinitis pigmentosa 62 (MAK), Rh deficiency syndrome (RHAG), Rhizomelic chondrodysplasia punctata, type 1 (PEX7), Rhizomelic chondrodysplasia punctata, type 2 (GNPAT), Rhizomelic chondrodysplasia punctata, type 3 (AGPS), Rigid spine syndrome, SELENON-related (SELENON), RLBP1-related retinopathies (RLBP1), Roberts-SC phocomelia syndrome (ESCO2), RYR1-related disorders (RYR1), S-adenosylhomocysteine hydrolase deficiency (AHCY), Sandhoff disease (HEXB), Schimke immunoosseous dysplasia (SMARCAL1), Schindler disease (NAGA), Senior-Loken syndrome 5 (IQCB1), Sepiapterin reductase deficiency (SPR), Severe combined immunodeficiency, CD247-related (CD247), Severe combined immunodeficiency, CD3D-related (CD3D), Severe combined immunodeficiency, CD3E-related (CD3E), Severe combined immunodeficiency, CORO1A-related (CORO1A), Severe combined immunodeficiency, FOXN1-related (FOXN1), Severe combined immunodeficiency, IKBKB-related (IKBKB), Severe combined immunodeficiency, IL7R-related (IL7R), Severe combined immunodeficiency, JAK3-related (JAK3), Severe combined immunodeficiency, NHEJ1-related (NHEJ1), Severe combined immunodeficiency, PRKDC-related (PRKDC), Severe combined immunodeficiency, PTPRC-related (PTPRC), Severe combined immunodeficiency, RAG1-related (RAG1), Severe combined immunodeficiency, RAG2-related (RAG2), Severe combined immunodeficiency, X-linked (IL2RG), Severe congenital neutropenia 5 (VPS45), Short chain acyl-CoA dehydrogenase deficiency (ACADS), Short/branched chain acyl-CoA dehydrogenase deficiency (ACADSB), Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1), Shwachman-Diamond syndrome (SBDS), Sialidosis (NEU1), Sjogren-Larsson syndrome (ALDH3A2), Skeletal dysplasias, SLC26A2-related (SLC26A2), SLC4A1-related conditions (SLC4A1), Smith-Lemli-Opitz syndrome (DHCR7), SOFT syndrome (POC1A), Spastic ataxia, Charlevoix-Saguenay type (SACS), Spastic paraplegia 21 (SPG21), Spastic paraplegia 7 (SPG7), Spastic paraplegia, type 15 (ZFYVE26), Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4), SPG11-related disorders (SPG11), Spinal muscular atrophy (SMN1), Spondylocostal dysostosis 1 (DLL3), Spondylometaepiphyseal dysplasia-short limb-abnormal calcification syndrome (DDR2), Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2), Steel syndrome (COL27A1), Steroid resistant nephrotic syndrome, type 1 (NPHS1), Steroid-resistant nephrotic syndrome, type 2 (NPHS2), Steroid-resistant nephrotic syndrome, type 3 (PLCE1), Stuve-Wiedemann syndrome (LIFR), SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form (SUCLA2), SURF1-related disorders (SURF1), Surfactant dysfunction, ABCA3-related (ABCA3), Tay-Sachs disease (HEXA), TBCE-related disorders (TBCE), TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2), Thiamine-responsive megaloblastic anemia syndrome (SLC19A2), THOC2-related conditions (X-linked) (THOC2), Thyroid dyshormonogenesis 1 (SLC5A5), Thyroid dyshormonogenesis 2A (TPO), Thyroid dyshormonogenesis 3 (TG), Thyroid dyshormonogenesis 6 (DUOX2), Thyroid dyshormonogenesis, DUOXA2-related (DUOXA2), Thyroid dyshormonogenesis, IYD-related (IYD), TK2-related mitochondrial disorders (TK2), TMEM67-related disorders (TMEM67), TNXB-related classical-like Ehlers-Danlos syndrome (TNXB), Transcobalamin II deficiency (TCN2), TREX1-related disorders (TREX1), Trichohepatoenteric syndrome 1 (TTC37 [SKIC3]), Trichohepatoenteric syndrome 2 (SKIC2), TRIM32-related disorders (TRIM32), Trimethylaminuria (FMO3), Triple A syndrome (AAAS), TULP1-related disorders (TULP1), Tyrosine hydroxylase deficiency (TH), Tyrosinemia, type I (FAH), Tyrosinemia, type II (TAT), Tyrosinemia, type III (HPD), Usher syndrome type 1G (USH1G), Usher syndrome type 2D (WHRN), Usher syndrome, type 1B (MYO7A), Usher syndrome, type 1C (USH1C), Usher syndrome, type 1D (CDH23), Usher syndrome, type 1F (PCDH15), Usher syndrome, type 1J (CIB2), Usher syndrome, type 2A (USH2A), Usher syndrome, type 2C (ADGRV1), Usher syndrome, type 3A (CLRN1), Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL), Vitamin D-dependent rickets, type 1A (CYP27B1), Vitamin D-resistant rickets, type 2A (VDR), VLDLR-associated cerebellar hypoplasia (VLDLR), Warsaw breakage syndrome (DDX11), Werner syndrome (WRN), Wilson disease (ATP7B), Wiskott-Aldrich syndrome, X-linked (WAS), Wolcott-Rallison syndrome (EIF2AK3), Woodhouse-Sakati syndrome (DCAF17), WWOX deficiency (WWOX), Xeroderma pigmentosum group E (DDB2), Xeroderma pigmentosum, group A (XPA), Xeroderma pigmentosum, group C (XPC), Xeroderma pigmentosum, variant type (XP-V) (POLH), X-linked agammaglobulinemia (BTK), X-linked chondrodysplasia punctata 1 (ARSE/ARSL), X-linked congenital adrenal hypoplasia (NR0B1), X-linked developmental disorders, ARX-related (ARX), X-linked heterotaxy-1 (ZIC3), X-Linked hyper IgM syndrome (CD40LG), X-linked infantile spinal muscular atrophy (UBA1), X-linked myotubular myopathy (MTM1), X-linked Opitz G/BBB syndrome (MID1), Zellweger spectrum disorder, PEX13-related (PEX13), Zellweger spectrum disorder, PEX16-related (PEX16), Zellweger spectrum disorder, PEX5-related (PEX5), Zellweger spectrum disorders, PEX10-related (PEX10), Zellweger spectrum disorders, PEX12-related (PEX12), Zellweger spectrum disorders, PEX1-related (PEX1), Zellweger spectrum disorders, PEX26-related (PEX26), Zellweger spectrum disorders, PEX2-related (PEX2), Zellweger spectrum disorders, PEX6-related (PEX6).

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