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Full list of conditions tested on Comprehensive 556 gene panel

* X-Linked Conditions   ^ Autosomal Dominant Conditions

Condition Gene
Core Carrier Screening Comprehensive Carrier Screening Cystic fibrosis CFTR
Fragile X syndrome* FMR1
Spinal muscular atrophy SMN1
3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL
ABCB11-related conditions ABCB11
ABCC8-related conditions ABCC8
Abetalipoproteinemia MTTP
Achromatopsia (CNGB3-related) CNGB3
ACOX1-related conditions ACOX1
Acrodermatitis enteropathica SLC39A4
Adenosine deaminase deficiency ADA
Aicardi-Goutieres syndrome 5 SAMHD1
Aldosterone synthase deficiency CYP11B2
Alpha-mannosidosis MAN2B1
Alpha-thalassemia HBA1/HBA2
Alpha-thalassemia X-linked intellectual disability syndrome* ATRX
Alport syndrome (COL4A3-related) COL4A3
Alport syndrome (COL4A4-related) COL4A4
Alport syndrome (COL4A5-related)* COL4A5
Alström syndrome ALMS1
Arginase deficiency ARG1
Argininosuccinate lyase deficiency ASL
Aromatase deficiency CYP19A1
Asparagine synthetase deficiency ASNS
Aspartylglucosaminuria AGA
Ataxia with vitamin E deficiency TTPA
ATM-related conditions ATM
ATP7A-related conditions* ATP7A
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia AIRE
Autosomal recessive congenital ichthyosis (TGM1-related) TGM1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay SACS
Bardet-Biedl syndrome (BBS10-related) BBS10
Bardet-Biedl syndrome (BBS12-related) BBS12
BBS1-related conditions BBS1
BBS2-related conditions BBS2
BCS1L-related conditions BCS1L
Beta-ketothiolase deficiency ACAT1
Biopterin-deficient hyperphenylalaninemia (PTS-related) PTS
Bloom syndrome BLM
BSND-related conditions BSND
Canavan disease ASPA
Carbamoyl phosphate synthetase I deficiency CPS1
Carnitine palmitoyltransferase I deficiency CPT1A
Carnitine palmitoyltransferase II deficiency CPT2
Carpenter syndrome (RAB23-related) RAB23
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders RMRP
CDH23-related conditions CDH23
CEP290-related conditions CEP290
Cerebrotendinous xanthomatosis CYP27A1
CERKL-related conditions CERKL
Charcot-Marie-Tooth disease type 1X* GJB1
Chorea-acanthocytosis VPS13A
Choroideremia* CHM
Chronic granulomatous disease (CYBA-related) CYBA
Chronic granulomatous disease (CYBB-related)* CYBB
Citrin deficiency SLC25A13
Citrullinemia type 1 ASS1
CLN3-related conditions CLN3
CLRN1-related conditions CLRN1
Cobalamin C deficiency MMACHC
Cobalamin D deficiency MMADHC
Cockayne syndrome A ERCC8
Cockayne syndrome B ERCC6
Cohen syndrome VPS13B
Combined malonic and methylmalonic aciduria ACSF3
Combined oxidative phosphorylation deficiency 1 GFM1
Combined oxidative phosphorylation deficiency 3 TSFM
Combined pituitary hormone deficiency (LHX3-related) LHX3
Combined pituitary hormone deficiency (PROP1-related) PROP1
Congenital adrenal hyperplasia due to 3-beta- hydroxysteroid dehydrogenase deficiency HSD3B2
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency CYP21A2
Congenital disorder of glycosylation (SLC35A3-related) SLC35A3
Congenital disorder of glycosylation type Ia PMM2
Congenital disorder of glycosylation type Ib MPI
Congenital disorder of glycosylation type Ic ALG6
Congenital insensitivity to pain with anhidrosis NTRK1
Congenital myasthenic syndrome (CHRNE-related) CHRNE
Congenital nephrotic syndrome type 1 NPHS1
Congenital nephrotic syndrome type 2 NPHS2
Corneal dystrophy and perceptive deafness SLC4A11
CRB1-related conditions CRB1
CYP11B1-related conditions CYP11B1
CYP17A1-related conditions CYP17A1
Cystinosis CTNS
DHDDS-related conditions DHDDS
Dihydrolipoamide dehydrogenase deficiency DLD
Distal renal tubular acidosis with deafness (ATP6V1B1-related) ATP6V1B1
DMD-related conditions* DMD
DYSF-related conditions DYSF
Dyskeratosis congenita spectrum disorders (RTEL1-related) RTEL1
Dystrophic epidermolysis bullosa COL7A1
EDA-related conditions* EDA
Ehlers-Danlos syndrome, dermatosparaxis type ADAMTS2
Ellis-van Creveld syndrome (EVC-related) EVC
Emery-Dreifuss muscular dystrophy (EMD-related)* EMD
Ethylmalonic encephalopathy ETHE1
EVC2-related conditions EVC2
Fabry disease* GLA
Factor IX deficiency (hemophilia B)* F9
Familial chylomicronemia syndrome LPL
Familial dysautonomia ELP1
Familial hypercholesterolemia (LDLR-related)^ LDLR
Familial hypercholesterolemia (LDLRAP1-related) LDLRAP1
Fanconi anemia type A FANCA
Fanconi anemia type C FANCC
Fanconi anemia type G FANCG
FH-related conditions FH
Galactokinase deficiency galactosemia GALK1
Galactosemia (GALT-related) GALT
GBA-related conditions including Gaucher disease GBA
GBE1-related conditions GBE1
Gitelman syndrome SLC12A3
GJB2-related conditions GJB2
GLB1-related conditions GLB1
GLE1-related conditions GLE1
Glutaric acidemia type I GCDH
Glutaric acidemia type IIA ETFA
Glutaric acidemia type IIC ETFDH
Glycine encephalopathy (AMT-related) AMT
Glycine encephalopathy (GLDC-related) GLDC
Glycogen storage disease type Ia G6PC
Glycogen storage disease type II (Pompe disease) GAA
Glycogen storage disease type III AGL
Glycogen storage disease type V PYGM
Glycogen storage disease type VII PFKM
GNE-related conditions GNE
GNPTAB-related conditions GNPTAB
Guanidinoacetate methyltransferase deficiency GAMT
Gyrate atrophy of the choroid and retina OAT
HADHA-related conditions HADHA
HBB-related hemoglobinopathies HBB
Hereditary fructose intolerance ALDOB
Hereditary hemochromatosis type 2 (HJV-related) HJV
Hereditary hemochromatosis type 3 TFR2
Hermansky-Pudlak syndrome type 1 HPS1
Hermansky-Pudlak syndrome type 3 HPS3
HGSNAT-related conditions HGSNAT
Holocarboxylase synthetase deficiency HLCS
Homocystinuria due to cobalamin E deficiency MTRR
Homocystinuria due to cystathionine beta-synthase deficiency CBS
Homocystinuria due to MTHFR deficiency MTHFR
HSD17B4-related conditions HSD17B4
Hydrolethalus syndrome type 1 HYLS1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome SLC25A15
Hypophosphatasia ALPL
Isovaleric acidemia IVD
Joubert syndrome and related disorders (MKS1-related) MKS1
Joubert syndrome and related disorders (RPGRIP1L- related) RPGRIP1L
Joubert syndrome and related disorders (TMEM216-related) TMEM216
Junctional epidermolysis bullosa (LAMC2-related) LAMC2
KCNJ11-related conditions KCNJ11
Krabbe disease GALC
LAMA2-related muscular dystrophy LAMA2
LAMA3-related conditions LAMA3
LAMB3-related conditions LAMB3
Leber congenital amaurosis 5 LCA5
Leukoencephalopathy with vanishing white matter (EIF2B5-related) EIF2B5
Limb-girdle muscular dystrophy (CAPN3-related) CAPN3
Limb-girdle muscular dystrophy type 2C SGCG
Limb-girdle muscular dystrophy type 2D SGCA
Limb-girdle muscular dystrophy type 2E SGCB
Lipoid congenital adrenal hyperplasia STAR
Lysinuric protein intolerance SLC7A7
Lysosomal acid lipase deficiency LIPA
Major histocompatibility complex class II deficiency (CIITA- related) CIITA
Maple syrup urine disease type 1A BCKDHA
Maple syrup urine disease type 1B BCKDHB
Maple syrup urine disease type 2 DBT
Medium-chain acyl-CoA dehydrogenase deficiency ACADM
Megalencephalic leukoencephalopathy with subcortical cysts 1 MLC1
Metachromatic leukodystrophy (ARSA-related) ARSA
Methylmalonic acidemia (MMAA-related) MMAA
Methylmalonic acidemia (MMAB-related) MMAB
Methylmalonic acidemia (MUT-related) MUT
MFSD8-related conditions MFSD8
Microcephaly, postnatal progressive, with seizures and brain atrophy MED17
Mitochondrial complex I deficiency 9 NDUFS6
Mitochondrial complex I deficiency 16 NDUFAF5
Mitochondrial complex I deficiency 20/ACAD9 deficiency ACAD9
Mitochondrial complex IV deficiency / Leigh syndrome, French Canadian type LRPPRC
Mitochondrial neurogastrointestinal encephalomyopathy TYMP
MPL-related conditions MPL
MPV17-related conditions MPV17
Mucolipidosis type III gamma GNPTG
Mucolipidosis type IV MCOLN1
Mucopolysaccharidosis type I IDUA
Mucopolysaccharidosis type II* IDS
Mucopolysaccharidosis type IIIA SGSH
Mucopolysaccharidosis type IIIB NAGLU
Mucopolysaccharidosis type IIID GNS
Mucopolysaccharidosis type IX HYAL1
Mucopolysaccharidosis type VI ARSB
Multiple sulfatase deficiency SUMF1
Muscular dystrophy-dystroglycanopathy (FKRP-related) FKRP
Muscular dystrophy-dystroglycanopathy (FKTN-related) FKTN
MYO7A-related conditions MYO7A
Myopathy, lactic acidosis, and sideroblastic anemia 1 PUS1
N-acetylglutamate synthase deficiency NAGS
Nemaline myopathy 2 NEB
Nephrogenic diabetes insipidus (AQP2-related) AQP2
Neuronal ceroid lipofuscinosis type 1 PPT1
Neuronal ceroid lipofuscinosis type 2 TPP1
Neuronal ceroid lipofuscinosis type 5 CLN5
Neuronal ceroid lipofuscinosis type 6 CLN6
Neuronal ceroid lipofuscinosis type 8 CLN8
Niemann-Pick disease type C (NPC1-related) NPC1
Niemann-Pick disease type C (NPC2-related) NPC2
Niemann-Pick disease types A and B SMPD1
Nijmegen breakage syndrome NBN
Nonsyndromic deafness (LOXHD1-related) LOXHD1
NR2E3-related conditions NR2E3
OPA3-related conditions OPA3
Ornithine transcarbamylase deficiency* OTC
Osteopetrosis (TCIRG1-related) TCIRG1
PCDH15-related conditions PCDH15
PEX7-related conditions PEX7
Phenylalanine hydroxylase deficiency PAH
Phosphoglycerate dehydrogenase deficiency PHGDH
Polycystic kidney disease (PKHD1-related) PKHD1
Polymicrogyria (ADGRG1-related) ADGRG1
POMGNT1-related conditions POMGNT1
Pontocerebellar hypoplasia type 2D SEPSECS
Pontocerebellar hypoplasia type 6 RARS2
Primary carnitine deficiency SLC22A5
Primary ciliary dyskinesia (DNAH5-related) DNAH5
Primary ciliary dyskinesia (DNAI1-related) DNAI1
Primary ciliary dyskinesia (DNAI2-related) DNAI2
Primary hyperoxaluria type 1 AGXT
Primary hyperoxaluria type 2 GRHPR
Primary hyperoxaluria type 3 HOGA1
Propionic acidemia (PCCA-related) PCCA
Propionic acidemia (PCCB-related) PCCB
PRPS1-related conditions* PRPS1
PSAP-related conditions PSAP
Pycnodysostosis CTSK
Pyruvate carboxylase deficiency PC
Pyruvate dehydrogenase complex deficiency (PDHA1-related)* PDHA1
Pyruvate dehydrogenase complex deficiency (PDHB- related) PDHB
RAPSN-related conditions RAPSN
RDH12-related conditions RDH12
Retinitis pigmentosa 25 EYS
Retinitis pigmentosa 28 FAM161A
Rhizomelic chondrodysplasia punctata type 3 AGPS
Roberts syndrome ESCO2
RPE65-related conditions RPE65
Sandhoff disease HEXB
Schimke immuno-osseous dysplasia SMARCAL1
Severe combined immunodeficiency due to DCLRE1C (Artemis) deficiency DCLRE1C
Severe combined immunodeficiency due to RAG2 deficiency RAG2
Severe congenital neutropenia due to HAX1 deficiency HAX1
Severe congenital neutropenia due to VPS45 deficiency VPS45
Sialic acid storage diseases SLC17A5
Sjögren-Larsson syndrome ALDH3A2
SLC12A6-related conditions SLC12A6
SLC26A2-related conditions SLC26A2
SLC26A4-related conditions SLC26A4
SLC37A4-related conditions SLC37A4
Smith-Lemli-Opitz syndrome DHCR7
Spastic paraplegia type 15 ZFYVE26
Spastic paraplegia type 49 TECPR2
Spondylocostal dysostosis (MESP2-related) MESP2
Steel syndrome COL27A1
Stüve-Wiedemann syndrome LIFR
Tay-Sachs disease HEXA
Transient infantile liver failure TRMU
Tyrosine hydroxylase deficiency TH
Tyrosinemia type I FAH
Tyrosinemia type II TAT
USH1C-related conditions USH1C
USH2A-related conditions USH2A
Very long-chain acyl-CoA dehydrogenase deficiency ACADVL
VRK1-related conditions VRK1
VSX2-related conditions VSX2
Wilson disease ATP7B
WNT10A-related conditions WNT10A
X-linked adrenoleukodystrophy* ABCD1
X-linked creatine transporter deficiency* SLC6A8
X-linked juvenile retinoschisis* RS1
X-linked myotubular myopathy* MTM1
X-linked severe combined immunodeficiency* IL2RG
Xeroderma pigmentosum complementation group A XPA
Xeroderma pigmentosum complementation group C XPC
Zellweger spectrum disorder (PEX1-related) PEX1
Zellweger spectrum disorder (PEX2-related) PEX2
Zellweger spectrum disorder (PEX6-related) PEX6
Zellweger spectrum disorder (PEX10-related) PEX10
Zellweger spectrum disorder (PEX12-related) PEX12
2-methyl-3-hydroxybutyric aciduria* HSD17B10
17-beta hydroxysteroid dehydrogenase 3 deficiency HSD17B3
ABCA3-related conditions ABCA3
ABCA4-related conditions ABCA4
ADGRV1-related conditions ADGRV1
AHI1-related conditions AHI1
Aicardi-Goutieres syndrome 2 RNASEH2B
Aicardi-Goutieres syndrome 3 RNASEH2C
Aicardi-Goutieres syndrome 4 RNASEH2A
AIPL1-related conditions AIPL1
ALG13-related conditions* ALG13
Alpha-N-acetylgalactosaminidase deficiency NAGA
Androgen insensitivity syndrome* AR
ARL6-related conditions ARL6
ARX-related conditions* ARX
Ataxia-telangiectasia-like disorder MRE11
ATP8B1-related conditions ATP8B1
Atransferrinemia TF
Autosomal recessive congenital ichthyosis (ABCA12-related) ABCA12
AVPR2-related conditions* AVPR2
Bardet-Biedl syndrome (BBS7-related) BBS7
Bardet-Biedl syndrome (BBS9-related) BBS9
Barth syndrome* TAZ
Bartter syndrome type 1 SLC12A1
Bartter syndrome type 2 KCNJ1
BBS4-related conditions BBS4
BBS5-related conditions BBS5
Beta-mannosidosis MANBA
Biopterin-deficient hyperphenylalaninemia (PCBD1-related) PCBD1
Biopterin-deficient hyperphenylalaninemia (QDPR-related) QDPR
Biotin-responsive basal ganglia disease SLC19A3
BRIP1-related conditions BRIP1
Brittle cornea syndrome (PRDM5-related) PRDM5
Brittle cornea syndrome (ZNF469-related) ZNF469
Cardioencephalomyopathy SCO2
Carnitine-acylcarnitine translocase deficiency SLC25A20
Catecholaminergic polymorphic ventricular tachycardia (CASQ2-related) CASQ2
CC2D2A-related conditions CC2D2A
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 VLDLR
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma SNAP29
Charcot-Marie-Tooth disease type 4D NDRG1
Chediak-Higashi syndrome LYST
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities MECR
Chronic granulomatous disease (NCF2-related) NCF2
Cobalamin F deficiency LMBRD1
COL11A2-related conditions COL11A2
COL17A1-related conditions COL17A1
Combined pituitary hormone deficiency (POU1F1-related) POU1F1
Congenital adrenal insufficiency CYP11A1
Congenital chronic diarrhea (DGAT1-related) DGAT1
Congenital disorder of glycosylation type Ik ALG1
Congenital disorder of glycosylation type Iv NGLY1
Congenital dyserythropoietic anemia type II SEC23B
Congenital hydrocephalus-1 CCDC88C
Congenital hypothyroidism (TSHB-related) TSHB
Congenital myasthenic syndrome (CHAT-related) CHAT
Congenital secretory chloride diarrhea SLC26A3
CTSC-related conditions CTSC
CYP1B1-related conditions CYP1B1
CYP7B1-related conditions CYP7B1
Cytochrome P450 oxidoreductase deficiency POR
Desbuquois dysplasia type 1 CANT1
Developmental and epileptic encephalopathy (CAD-related) CAD
DGUOK-related conditions DGUOK
DOK7-related conditions DOK7
Donnai-Barrow syndrome LRP2
Dubin-Johnson syndrome ABCC2
DUOX2-related conditions DUOX2
DYNC2H1-related conditions DYNC2H1
Dyskeratosis congenita spectrum disorders (DKC1-related)* DKC1
Dyskeratosis congenita spectrum disorders (TERT-related) TERT
Ehlers-Danlos syndrome, kyphoscoliotic type PLOD1
Epidermolysis bullosa with pyloric atresia (ITGB4-related) ITGB4
Epimerase deficiency galactosemia GALE
ERCC2-related conditions ERCC2
Factor V Leiden thrombophilia^ F5
Familial hemophagocytic lymphohistiocytosis type 2 PRF1
Familial hemophagocytic lymphohistiocytosis type 3 UNC13D
Familial hemophagocytic lymphohistiocytosis type 4 STX11
Familial hemophagocytic lymphohistiocytosis type 5 STXBP2
Fanconi anemia type B* FANCB
Fanconi anemia type D2 FANCD2
Fanconi anemia type E FANCE
Fanconi anemia type I FANCI
Fanconi anemia type L FANCL
FHL1-related conditions* FHL1
FKBP10-related conditions FKBP10
Foveal hypoplasia (SLC38A8-related) SLC38A8
FOXN1-related conditions FOXN1
Fraser syndrome (FRAS1-related) FRAS1
Fraser syndrome (FREM2-related) FREM2
Fraser syndrome (GRIP1-related) GRIP1
Fructose-1,6-bisphosphatase deficiency FBP1
Fucosidosis FUCA1
Galactosialidosis CTSA
GATM-related conditions GATM
GCH1-related conditions GCH1
GDF5-related conditions GDF5
Geroderma osteodysplastica GORAB
GHR-related conditions GHR
Glutaric acidemia type IIB ETFB
Glutathione synthetase deficiency GSS
Glycogen storage disease type IXb PHKB
Glycogen storage disease type IXc PHKG2
GM3 synthase deficiency ST3GAL5
GUCY2D-related conditions GUCY2D
HCFC1-related conditions* HCFC1
Heme oxygenase 1 deficiency HMOX1
Hemolytic anemia, CD59-mediated CD59
Hereditary hemochromatosis type 2 (HAMP-related) HAMP
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
Homocystinuria due to cobalamin G deficiency MTR
HPRT1-related conditions* HPRT1
Hyper-IgM immunodeficiency (CD40-related) CD40
Hyperphosphatemic familial tumoral calcinosis (GALNT3-related) GALNT3
Hypomyelinating leukodystrophy-12 VPS11
Ichthyosis prematurity syndrome SLC27A4
IGHMBP2-related conditions IGHMBP2
IKBKB-related conditions IKBKB
Imerslund-Gr sbeck syndrome AMN
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT3B
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 ZBTB24
Isolated ectopia lentis ADAMTSL4
ITGB3-related conditions ITGB3
Johanson-Blizzard syndrome UBR1
Junctional epidermolysis bullosa with pyloric atresia (ITGA6-related) ITGA6
L1 syndrome* L1CAM
Leukoencephalopathy with vanishing white matter (EIF2B1-related) EIF2B1
Leukoencephalopathy with vanishing white matter (EIF2B2-related) EIF2B2
Leukoencephalopathy with vanishing white matter (EIF2B3-related) EIF2B3
Leukoencephalopathy with vanishing white matter (EIF2B4-related) EIF2B4
LIG4 syndrome LIG4
Limb-girdle muscular dystrophy type 2F SGCD
LRAT-related conditions LRAT
Malonyl-CoA decarboxylase deficiency MLYCD
MECP2-related conditions* MECP2
Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency HADH
MEDNIK syndrome AP1S1
Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration TANGO2
Methylmalonic acidemia (MCEE-related) MCEE
Microcephalic osteodysplastic primordial dwarfism type II PCNT
Mitochondrial complex I deficiency 1 NDUFS4
Mitochondrial complex I deficiency 3 NDUFS7
Mitochondrial complex I deficiency 4 NDUFV1
Mitochondrial complex I deficiency 10 NDUFAF2
Mitochondrial complex I deficiency 19 FOXRED1
Mitochondrial complex IV deficiency 6 COX15
Mitochondrial complex IV deficiency 12 PET100
Mitochondrial DNA depletion syndrome-2 TK2
Mitochondrial trifunctional protein deficiency (HADHB- related) HADHB
MKKS-related conditions MKKS
Molybdenum cofactor deficiency (MOCS1-related) MOCS1
Molybdenum cofactor deficiency (MOCS2-related) MOCS2B
Molybdenum cofactor deficiency (MOCS2-related) MOCS2A
Mucopolysaccharidosis type IVA GALNS
Mucopolysaccharidosis type VII GUSB
Mulibrey nanism TRIM37
Multiple pterygium syndrome CHRNG
Muscular dystrophy-dystroglycanopathy (LARGE1-related) LARGE1
Muscular dystrophy-dystroglycanopathy (POMT1-related) POMT1
Muscular dystrophy-dystroglycanopathy (POMT2-related) POMT2
Muscular dystrophy-dystroglycanopathy (RXYLT1-related) RXYLT1
MUSK-related conditions MUSK
MVK-related conditions MVK
Myotonia congenita CLCN1
Nephronophthisis (INVS-related) INVS
Nephronophthisis (NPHP1-related) NPHP1
Neuronal ceroid lipofuscinosis type 10 CTSD
Nonsyndromic deafness (MYO15A-related) MYO15A
Nonsyndromic deafness (OTOA-related) OTOA
Nonsyndromic deafness (SYNE4-related) SYNE4
Nonsyndromic deafness (TMC1-related) TMC1
Nonsyndromic deafness (TMPRSS3-related) TMPRSS3
Nonsyndromic intellectual disability (CC2D1A-related) CC2D1A
NR0B1-related conditions* NR0B1
NSMCE3 deficiency NSMCE3
OCRL-related conditions* OCRL
Oculocutaneous albinism type 2 OCA2
Oculocutaneous albinism type 3 TYRP1
Oculocutaneous albinism type 4 SLC45A2
Oculocutaneous albinism types 1A and 1B TYR
Opitz GBBB syndrome (MID1-related)* MID1
Osteogenesis imperfecta (BMP1-related) BMP1
Osteogenesis imperfecta (CRTAP-related) CRTAP
Osteogenesis imperfecta (P3H1-related) P3H1
OSTM1 deficiency associated osteopetrosis OSTM1
OTOF-related conditions OTOF
Pantothenate kinase-associated neurodegeneration PANK2
Parkinson disease 15 FBXO7
PEX5-related conditions PEX5
PGM3-congenital disorder of glycosylation PGM3
PIGN-congenital disorder of glycosylation PIGN
PJVK-related conditions DFNB59
PLA2G6-related conditions PLA2G6
PLEKHG5-related conditions PLEKHG5
PLP1-related conditions* PLP1
POLG-related conditions POLG
Pontocerebellar hypoplasia (TSEN54-related) TSEN54
Pontocerebellar hypoplasia type 1B EXOSC3
Primary ciliary dyskinesia (CCDC39-related) CCDC39
Primary ciliary dyskinesia (CCDC103-related) CCDC103
Primary ciliary dyskinesia (DNAH11-related) DNAH11
Primary microcephaly (MCPH1-related) MCPH1
Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) TBCD
Progressive familial intrahepatic cholestasis 3 ABCB4
Progressive pseudorheumatoid dysplasia WISP3
Prolidase deficiency PEPD
Prothrombin-related thrombophilia^ F2
Pyridoxal 5'-phosphate-dependent epilepsy PNPO
Pyridoxine-dependent epilepsy (ALDH7A1-related) ALDH7A1
Refsum disease (PHYH-related) PHYH
Retinitis pigmentosa 2* RP2
Retinitis pigmentosa 36 PRCD
Retinitis pigmentosa 62 MAK
Rhizomelic chondrodysplasia punctata type 2 GNPAT
RLBP1-related conditions RLBP1
RYR1-related conditions RYR1
SAMD9-related conditions SAMD9
Seckel syndrome (CEP152-related) CEP152
Sepiapterin reductase deficiency SPR
Severe combined immunodeficiency due to CD3-delta deficiency CD3D
Severe combined immunodeficiency due to CD3-epsilon deficiency CD3E
Severe combined immunodeficiency due to CD45 deficiency PTPRC
Severe combined immunodeficiency due to IL7R-alpha deficiency IL7R
Severe combined immunodeficiency due to JAK3 deficiency JAK3
Severe combined immunodeficiency due to RAG1 deficiency RAG1
Severe congenital neutropenia due to G6PC3 deficiency G6PC3
Sialidosis NEU1
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC1A4
SPG11-related conditions SPG11
Spinocerebellar ataxia (ANO10-related) ANO10
Spondylocostal dysostosis (DLL3-related) DLL3
Steroid 5-alpha-reductase deficiency SRD5A2
Sulfite oxidase deficiency SUOX
SURF1-related conditions SURF1
TBCE-related conditions TBCE
Thiamine-responsive megaloblastic anemia SLC19A2
Thyroid dyshormonogenesis (SLC5A5-related) SLC5A5
Thyroid dyshormonogenesis (TG-related) TG
Thyroid dyshormonogenesis (TPO-related) TPO
TMEM67-related conditions TMEM67
Transcobalamin II deficiency TCN2
TREX1-related conditions TREX1
Trichohepatoenteric syndrome (SKIV2L-related) SKIV2L
Trichohepatoenteric syndrome (TTC37-related) TTC37
TRIM32-related conditions TRIM32
Trimethylaminuria FMO3
Triple A syndrome AAAS
TSHR-related conditions TSHR
TULP1-related conditions TULP1
Tyrosinemia type III HPD
Vici syndrome EPG5
Vitamin D-dependent rickets type 1A CYP27B1
Vitamin D-dependent rickets type 2A VDR
VPS53-related conditions VPS53
Warsaw syndrome DDX11
WAS-related conditions* WAS
Werner syndrome WRN
Wolcott-Rallison syndrome EIF2AK3
Woodhouse-Sakati syndrome DCAF17
X-linked agammaglobulinemia* BTK
X-linked chondrodysplasia punctata type 1* ARSE
X-linked hyper-IgM immunodeficiency* CD40LG
Xeroderma pigmentosum, variant type POLH
Zellweger spectrum disorder (PEX13-related) PEX13
Zellweger spectrum disorder (PEX16-related) PEX16
Zellweger spectrum disorder (PEX26-related) PEX26
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