HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY

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1 Virtus Diagnostics Preconception Screen What diseases does it screen your carrier status for? Disease HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY ACIDURIA, TYPE III 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE II 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY 3-METHYLGLUTACONIC ACIDURIA, TYPE I 3-METHYLGLUTACONIC ACIDURIA, TYPE V ABCD SYNDROME ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME ACHONDROGENESIS, TYPE IB ACG1B ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY ADRENOLEUKODYSTROPHY ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM AGAMMAGLOBULINEMIA, X-LINKED AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY ACCPN AICARDI-GOUTIERES SYNDROME 1 AICARDI-GOUTIERES SYNDROME 2 AICARDI-GOUTIERES SYNDROME 3 AICARDI-GOUTIERES SYNDROME 4 AICARDI-GOUTIERES SYNDROME 5 ALLAN-HERNDON-DUDLEY SYNDROME AHDS ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS ALPHA THALASSEMIA ALPHA-METHYLACETOACETIC ACIDURIA ALPORT SYNDROME, AUTOSOMAL RECESSIVE ALPORT SYNDROME, AUTOSOMAL RECESSIVE ALPORT SYNDROME, X-LINKED ALSTROM SYNDROME AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL AMISH INFANTILE EPILEPSY SYNDROME ANAUXETIC DYSPLASIA ANHYDROTIC ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY, OSTEOPETROSIS, LYMPHEDEMA OLEDAID Symbol HSD17B3 OPA3 HSD3B2 HMGCL HADH AUH DNAJC19 EDNRB AAAS SLC26A2 ACADL ACADM ACADVL CYP21A2 ABCD1 PEX1 PEX10 PEX13 PEX26 PEX5 BTK SLC12A6 TREX1 RNASEH2B RNASEH2C RNASEH2A SAMDH1 SLC16A2 POLG HBA1 ACAT1 COL4A3 COL4A4 Col4A5 ALMS1 MPL ST3GAL5 RMRP IKBKG

2 ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ANTLEY-BIXLER SYNDROME ARGININOSUCCINIC ACIDURIA AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 ARTS SYNDROME ASPHYXIATING THORACIC DYSTROPHY 2 ASPHYXIATING THORACIC DYSTROPHY 3 ATAXIA, EARLY-ONSET, WITH oculomotor apraxia AND HYPOALBUMINEMIA ATAXIA-TELANGIECTASIA ATELOSTEOGENESIS, TYPE II a-thalassemia/mental RETARDATION SYNDROME,NONDELETION TYPE, X-LINKED ATYPICAL MYCOBACTERIOSIS, FAMILIAL ATYPICAL MYCOBACTERIOSIS, FAMILIAL ATYPICAL MYCOBACTERIOSIS, FAMILIAL ATYPICAL MYCOBACTERIOSIS, FAMILIAL ATYPICAL MYCOBACTERIOSIS, FAMILIAL ATYPICAL MYCOBACTERIOSIS, FAMILIAL ATYPICAL MYCOBACTERIOSIS, FAMILIAL AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE I Autosomal mental retardation Autosomal mental retardation Autosomal mental retardation CDG 1Q BARTH SYNDROME BARTTER SYNDROME, ANTENATAL, TYPE 1 BARTTER SYNDROME, ANTENATAL, TYPE 2 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 BIOTINIDASE DEFICIENCY BLOOM SYNDROME BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE BRITTLE CORNEA SYNDROME (Ehlers-Danlos syndrome type VIB) CANAVAN DISEASE CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE CARDIOMYOPATHY, DILATED, 3A CARNITINE DEFICIENCY, SYSTEMIC PRIMARY CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET ICOS POR ASL DDC ENPP1 VPS33B VIPAR PRPS1 IFT80 DYNC2H1 APTX ATM SLC26A2 ATRX IFNGR1 IFNGR2 IKBKG IL12B IL12RB1 STAT1 TYK2 AIRE NSUN2 ST3GAL3 SRD5A3 TAZ SLC12A1 KCNJ1 HIBCH AMACR BTD BLM BCKDHB ZNF469 ASPA CPS1 SCO2 TAZ SLC22A5 CPT1A CPT2 CPT2

3 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY CARPENTER SYNDROME CARTILAGE-HAIR HYPOPLASIA CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA CEREBROOCULOFACIOSKELETAL SYNDROME 1 CEREBROTENDINOUS XANTHOMATOSIS CEROID LIPOFUSCINOSIS, NEURONAL, 10 CEROID LIPOFUSCINOSIS, NEURONAL, 6 CEROID LIPOFUSCINOSIS, NEURONAL, 7 CEROID LIPOFUSCINOSIS, NEURONAL, 8 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT CHARCOT-MARIE-TOOTH DISEASE TYPE 4A CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H CHEDIAK HIGASHI SYNDROME CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 CHONDRODYSPLASIA, BLOMSTRAND TYPE CITRULLINEMIA, CLASSIC COCKAYNE SYNDROME TYPE B COCKAYNE SYNDROME, TYPE A COENZYME Q10 DEFICIENCY COENZYME Q10 DEFICIENCY COENZYME Q10 DEFICIENCY COENZYME Q10 DEFICIENCY COENZYME Q10 DEFICIENCY COENZYME Q10 DEFICIENCY COFFIN-LOWRY SYNDROME CLS COHEN SYNDROME COMBINED IMMUNODEFICIENCY, X-LINKED COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 COMBINED SAPOSIN DEFICIENCY CPT2 SLC25A20 RAB23 RMRP VLDLR SNAP29 ERCC6 CYP27A1 CTSD CLN6 MFSD8 CLN8 CLN8 GDAP1 FGD4 LYST ABCB4 ATP8B1 ABCB11 PTH1R ASS1 ERCC6 ERCC8 PDSS2 APTX CABC1 COQ2 COQ9 PDSS1 RPS6KA3 VPS13B IL2RG GFM1 MRPS16 TSFM TUFM MRPS22 PSAP NDUFA7 NDUFA1

4 Complex IV deficiency Complex IV deficiency Complex IV deficiency Complex IV deficiency Complex IV deficiency Complex IV deficiency CONGENITAL ADRENAL HYPERPLASIA CONGENITAL ADRENAL HYPERPLASIA CONGENITAL ADRENAL HYPOPLASIA CONGENITAL DEAFNESS WITH KERATOPACHYDERMIA & CONSTRICTIONS OF FINGERS & TOES CONGENITAL DISORDER OF GLYCOSYLATIO, TYPE IIa CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iig CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iih CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iie CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iif CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In NDUFAF2 NDUFAF4 NDUFS3 NDUFS4 NDUFS5 NDUFS6 NDUFS7 NDUFS8 NDUFV1 COX10 COX15 COX6B1 FASTKD2 sco1 sco2 CYP11B1 CYP17A1 NR0B1 GJB2 MGAT2 PMM2 ALG6 ALG12 ALG2 MOGS SLC35C1 B4GALT1 COG1 COG8 DOLK MPI ALG3 DPM1 MPDU1 ALG8 COG7 SLC35A1 DPAGT1 ALG1 ALG9 RFT1

5 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY CRANIOFRONTONASAL SYNDROME CREATINE DEFICIENCY SYNDROME, X-LINKED CRISPONI SYNDROME CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II CYSTIC FIBROSIS CYSTINOSIS, ADULT NONNEPHROPATHIC CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS, NEPHROPATHIC D-BIFUNCTIONAL PROTEIN DEFICIENCY DE SANCTIS-CACCHIONE SYNDROME DE SANCTIS-CACCHIONE SYNDROME DEFICIENCY OF ACYL-CoA DEHYDROGENASE FAMILY MEMBER 9 DEFICIENCY OF INTERLEUKIN 1 RECEPTOR ANTAGONIST DENT DISEASE 1 DESMOSTEROLOSIS DIARRHEA 4, MALABSORPTIVE, CONGENITAL DIASTROPHIC DYSPLASIA DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY DIHYDROPYRIMIDINE DEHYDROGENASE DISORDERED STEROIDOGENESIS DONNAI-BARROW SYNDROME DONOHUE SYNDROME DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED ELEJALDE DISEASE ELLIS-VAN CREVELD SYNDROME ELLIS-VAN CREVELD SYNDROME; EVC ENCEPHALOPATHY, ETHYLMALONIC EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE SLC4A11 ARX L1CAM HSD11B2 EFNB1 SLC6A8 CRLF1 EFEMP2 FBLN5 ATP6V0A2 CFTR CTNS CTNS CTNS HSD17B4 ERCC6 XPA ACAD9 IL1RN CLCN5 DHCR24 NEUROG3 SLC26A2 DLD DPYD POR LRP2 INSR HSPG2 IKBKG EDA MYO5A EVC2 EVC ETHE1 COL7A1 ITGA6 ITGB4 PLEC1 LAMA3 LAMB3 LAMC2

6 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION EPILEPSY, PYRIDOXINE-DEPENDENT; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS FABRY DISEASE FACIOGENITAL DYSPLASIA FAMILIAL MEDITERRANEAN FEVER Fanconi anemia type C FETAL AKINESIA DEFORMATION SEQUENCE FIBROMATOSIS, JUVENILE HYALINE FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND FRASER SYNDROME FRASER SYNDROME FRUCTOSE INTOLERANCE, HEREDITARY FUCOSIDOSIS FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY FUMARASE DEFICIENCY GALACTOKINASE DEFICIENCY GALACTOSEMIA GAUCHER DISEASE GELEOPHYSIC DYSPLASIA GLUCOSE-6-PHOSPHATE DEHYDROGENASE GLUTARIC ACIDEMIA I GLUTATHIONE SYNTHETASE DEFICIENCY GLYCINE ENCEPHALOPATHY GLYCINE ENCEPHALOPATHY GLYCINE ENCEPHALOPATHY GLYCOGEN STORAGE DISEASE I VON GIERKE DISEASE GLYCOGEN STORAGE DISEASE Ib GLYCOGEN STORAGE DISEASE Ic GLYCOGEN STORAGE DISEASE II (pompe) GLYCOGEN STORAGE DISEASE III GLYCOGEN STORAGE DISEASE IV GM1-GANGLIOSIDOSIS TYPE II GM1-GANGLIOSIDOSIS, TYPE I COL17A1 ITGB4 LAMA3 LAMB3 LAMC2 DSP PCDH19 ALDH7A1 ARX SLC25A22 EIF2AK3 GLA FGD1 MEFV FANCC RAPSN ANTXR2 WNT7A FRAS1 FREM2 ALDOB FUCA1 FKTN FH GALK1 GALT GBA ADAMTSL2 G6PD GCDH GSS AMT GCSH GLDC G6PC3 SLC37A4 SLC37A4 GAA AGL GBE1 GLB1 GLB1

7 GONADAL DYSGENESIS WITH ADRENAL FAILURE GRACILE SYNDROME GRISCELLI SYNDROME, TYPE 1 GRISCELLI SYNDROME, TYPE 2 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY HEMOCHROMATOSIS, JUVENILE, TYPE 2A HEMOCHROMATOSIS, JUVENILE, TYPE 2B HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 HEMOPHILIA A; HEMA HEMOPHILIA B; HEMB HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY VODI Hermansky Pudlak Syndrome, 9 HERMANSKY-PUDLAK SYNDROME 2 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 HETEROTAXY, VISCERAL, 1, X-LINKED HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HOMOCYSTINURIA HONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE HOYERAAL-HREIDARSSON SYNDROME HURLER SYNDROME HYALINOSIS, INFANTILE SYSTEMIC HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE DEF. HYPEREKPLEXIA AND EPILEPSY HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS CMT3, HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS CMT3, HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS CMT3, HYPOGONADOTROPIC HYPOGONADISM HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME HYPOPHOSPHATASIA, CHILDHOOD HYPOPHOSPHATEMIC osteopenia, AUTOSOMAL RECESSIVE NR5A1 BCS1L MYO5A RAB27A GAMT HJV HAMP PRF1 UNC13D STX11 STXBP2 F8 F9 SP110 PLDN AP3B1 UNC93B1 TLR3 ZIC3 HLCS CBS ARSE DKC1 IDUA ANTXR2 L1CAM LBR HADHA ARHGEF9 DOCK8 ABCC8 SLC25A15 PMP22 EGR2 MPZ PRX GNRHR CLDN19 TBCE ALPL DMP1

8 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME ICHTHYOSIS, LAMELLAR, 1 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 ORAI1 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2 STIM1 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 IMMUNODEFICIENCY, COMMON VARIABLE, 3 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED INFANTILE NEUROAXONAL DYSTROPHY INFANTILE SIALIC ACID STORAGE DISORDER INFANTILE-ONSET SPINOCEREBELLAR ATAXIA INFERTILE MALE SYNDROME INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS ISOVALERIC ACIDEMIA JOHANSON-BLIZZARD SYNDROME JOUBERT SYNDROME 3 JOUBERT SYNDROME 4 JOUBERT SYNDROME 5 JOUBERT SYNDROME 6 JUVENILE AMYOTROPHIC LATERAL SCLEROSIS 2 KRABBE DISEASE LACTIC ACIDOSIS, FATAL INFANTILE (mtdna depletion) LARYNGOONYCHOCUTANEOUS SYNDROME LATHOSTEROLOSIS LEIGH SYNDROME LEIGH SYNDROME, FRENCH-CANADIAN TYPE LEIGH SYNDROME, X-LINKED LESCH-NYHAN SYNDROME LETHAL CONGENITAL CONTRACTURE SYNDROME 1 LETHAL CONGENITAL CONTRACTURE SYNDROME 2 LEUKOCYTE ADHESION DEFICIENCY TYPE III LEUKODYSTROPHY, HYPOMYELINATING, 2 LEUKODYSTROPHY, HYPOMYELINATING, 5 LIPOID CONGENITAL ADRENAL HYPERPLASIA TSHB MBTPS2 TGM1 CLDN1 ORAI1 STIM1 CD3E CD3G CD3Z CD40LG CD19 DNMT3B FOXP3 PLA2G6 SLC17A5 C10ORF2 AR NTRK1 IVD UBR1 AHI1 NPHP1 CEP290 TMEM67 ALS2 GALC SUCLG1 LAMA3 SC5DL SURF1 LRPPRC PDHA1 HPRT1 GLE1 ERBB3 FERMT3 GJC2 FAM126A CYP11A1

9 LIPOID CONGENITAL ADRENAL HYPERPLASIA LISSENCEPHALY 2 LISSENCEPHALY 3 LISSENCEPHALY, X-LINKED, 1 LISSENCEPHALY, X-LINKED, 2 LOWE OCULOCEREBRORENAL SYNDROME LUJAN-FRYNS SYNDROME LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY MANNOSIDOSIS, ALPHA B, LYSOSOMAL MAPLE SYRUP URINE DISEASE Type Ia Marinesco-Sjogren Syndrome MARTSOLF SYNDROME MASA SYNDROME MECKEL SYNDROME TYPE 1 MECKEL SYNDROME, TYPE 5 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MENKES DISEASE MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA CASK MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 MENTAL RETARDATION AUTOSOMAL RECESSIVE 6 MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 MENTAL RETARDATION X-LINKED 19 INCLUDED MENTAL RETARDATION X-LINKED 72 MENTAL RETARDATION X-LINKED 88 MENTAL RETARDATION X-LINKED 89 MENTAL RETARDATION X-LINKED 90 MENTAL RETARDATION X-LINKED 92 MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE MENTAL RETARDATION X-LINKED SYNDROMIC UBE2A-RELATED MENTAL RETARDATION X-LINKED SYNDROMIC ZDHHC9-RELATED MENTAL RETARDATION X-LINKED SYP-RELATED MENTAL RETARDATION X-LINKED WITH BRACHYDACTYLY AND MACROGLOSSIA MENTAL RETARDATION X-LINKED ZNF711-RELATED MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 MENTAL RETARDATION, X-LINKED 21 MENTAL RETARDATION, X-LINKED 30 MENTAL RETARDATION, X-LINKED 41, 48 MRX41, STAR RELN TUBA1a DCX ARX OCRL MED12 SH2D1A XIAP ZMPSTE24 MAN2B1 BCKDHA SIL1 GAP2 L1CAM MKS1 RPGRIP1L MLC1 ATP7A CASK TRAPPC9 GRIK2 TUSC3 RPS6KA3 RAB39B AGTR2 ZNF41 DLG3 ZNF674 AFF2 HUWE1 UBE2A ZDHHC9 SYP CUL4B ZNF711 PRSS12 IL1RAPL1 PAK3 GDI1

10 MENTAL RETARDATION, X-LINKED 46 MENTAL RETARDATION, X-LINKED 59 MENTAL RETARDATION, X-LINKED 68 MENTAL RETARDATION, X-LINKED 9 MENTAL RETARDATION, X-LINKED 93 MENTAL RETARDATION, X-LINKED ANGELMAN, SYNDROMIC, CHRISTIANSON MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE MENTAL RETARDATION, X-LINKED, SYNDROMIC MENTAL RETARDATION, X-LINKED, SYNDROMIC 10 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, XLR, W CEREBELLAR HYPOPLASIA & DISTINCTIVE FACIAL APPEARANCE METACHROMATIC LEUKODYSTROPHY METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblc TYPE METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, cbla TYPE METHYLMALONIC ACIDURIA, cblb TYPE MEVALONIC ACIDURIA MICROPHTHALMIA, SYNDROMIC MICROPHTHALMIA, SYNDROMIC 9 (Matthew-Wood syndrome) MITOCHONDRIAL COMPLEX III DEFICIENCY MITOCHONDRIAL COMPLEX III DEFICIENCY MITOCHONDRIAL COMPLEX III DEFICIENCY MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME MOLYBDENUM COFACTOR DEFICIENCY MOLYBDENUM COFACTOR DEFICIENCY MSUD type 2 mtdna depletion, encephalomyopathic form mtdna depletion, encephalomyopathic form MUCOLIPIDOSIS II ALPHA/BETA MUCOLIPIDOSIS III ALPHA/BETA MUCOLIPIDOSIS IV MUCOPOLYSACCHARIDOSIS TYPE II MUCOPOLYSACCHARIDOSIS TYPE IIIA (Sanfilippo type A) MUCOPOLYSACCHARIDOSIS TYPE IIIC (Sanfilippo type c) ARHGEF6 AP1S2 ACSL4 FTSJ1 BRWD3 SLC9A6 SMS KDM5C HSD17B10 UPF3B sox3 sox3 OPHN1 ARSA PSAP MMACHC MUT MMAA MMAB MVK BCOR STRA6 BCS1L UQCRB UQCRQ C10ORF2 DGUOK MPV17 TK2 TYMP MOCS2 MOCS1 DBT RRM2B SUCLA2 GNPTAB GNPTAB MCOLN1 IDS SGSH HGSNAT

11 MUCOPOLYSACCHARIDOSIS TYPE VI MAROTEAUX-LAMY MUCOPOLYSACCHARIDOSIS TYPE VII SLY SYNDROME MULIBREY NANISM MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE MUSCLE-EYE-BRAIN DISEASE MUSCLE-EYE-BRAIN DISEASE MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A MUSCULAR DYSTROPHY, CONGENITAL, 1C MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D MUSCULAR DYSTROPHY, DUCHENNE TYPE MYD88 DEFICIENCY MYOCLONIC EPILEPSY OF LAFORA MYOCLONIC EPILEPSY OF LAFORA MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG MYOTUBULAR MYOPATHY 1 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NANCE-HORAN SYNDROME; NAVAJO NEUROHEPATOPATHY NEMALINE MYOPATHY 2 NEPHRONOPHTHISIS 1 NEPHRONOPHTHISIS 2 NEPHRONOPHTHISIS 4 NEPHROSIS 1, CONGENITAL, FINNISH TYPE nephrotic syndrome, STEROID-RESISTANT, AUTOSOMAL RECESSIVE nephrotic syndrome, TYPE 3 NEURAMINIDASE DEFICIENCY NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (Hallervorden-Spatz) NEURONAL CEROID LIPOFUSCINOSIS 1 NEURONAL CEROID LIPOFUSCINOSIS 2 NEURONAL CEROID LIPOFUSCINOSIS 3 NEURONAL CEROID LIPOFUSCINOSIS 5 NEUROPATHY, CONGENITAL HYPOMYELINATING: CHARCOT-MARIE-TOOTH DISEASE, TYPE NEUROPATHY, CONGENITAL HYPOMYELINATING: CHARCOT-MARIE-TOOTH DISEASE, TYPE ARSB GUSB TRIM37 ETFA ETFB ETFDH CHRNG CHRNA1 CHRND CHRNG FKRP POMGNT1 LAMA2 FKRP LARGE DMD MYD88D EPM2A NHLRC1 CSTB MTM1 NAGS NHS MPV17 NEB NPHP1 INVS NPHP4 NPHS1 NPHS2 PLCE1 NEU1 FOLR1 PANK2 PPT1 TPP1 CLN3 CLN5 EGR2 MPZ

12 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3 NEVO SYNDROME EDS NIEMANN-PICK DISEASE, TYPE NIEMANN-PICK DISEASE, TYPE A NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE C1 NIJMEGEN BREAKAGE SYNDROME NORRIE DISEASE ODONTOONYCHODERMAL DYSPLASIA OMENN SYNDROME OMENN SYNDROME OMENN SYNDROME OPITZ GBBB SYNDROME, X-LINKED OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO OSTEOGENESIS IMPERFECTA, TYPE IIB OSTEOGENESIS IMPERFECTA, TYPE VIII OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 PAGET DISEASE, JUVENILE PELIZAEUS-MERZBACHER DISEASE PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY PHENYLKETONURIA PIERSON SYNDROME PITUITARY DWARFISM III PITUITARY DWARFISM III PITUITARY DWARFISM III PITUITARY DWARFISM III PITUITARY HORMONE DEFICIENCY, COMBINED, 3; PLASMINOGEN DEFICIENCY TYPE I POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE PONTOCEREBELLAR HYPOPLASIA TYPE 2A PONTOCEREBELLAR HYPOPLASIA TYPE 4 PORPHYRIA, CONGENITAL ERYTHROPOIETIC PRECOCIOUS PUBERTY, MALE-LIMITED PRIMARY LATERAL SCLEROSIS, JUVENILE PROPERDIN DEFICIENCY, X-LINKED PROPIONIC ACIDEMIA PROPIONIC ACIDEMIA IKBKAP HAX1 PLOD1 NPC2 SMPD1 SMPD1 NPC1 NBN NDP WNT10A DCLRE1C RAG1 RAG2 MID1 TIMM8A OTC CRTAP LEPRE1 TCIRG1 CA2 CLCN7 OSTM1 TNFRSF11B PLP1 ACOX1 PAH LAMB2 HESX1 LHX3 POU1F1 PROP1 LHX3 PLG PKHD1 TSEN54 TSEN54 UROS LHCGR ALS2 CFP PCCB PCCA

13 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PYCNODYSOSTOSIS PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY PYRUVATE CARBOXYLASE DEFICIENCY PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY PYRUVATE KINASE DEFICIENCY OF RED CELLS RAINE SYNDROME RENAL-HEPATIC-PANCREATIC DYSPLASIA RENPENNING SYNDROME 1 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS RETT SYNDROME RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 RIGID SPINE MUSCULAR DYSTROPHY 1 ROBERTS SYNDROME SANDHOFF DISEASE SCHNECKENBECKEN DYSPLASIA SCID W MICROCEPHALY, GROWTH RETARDATION, & SENS TO IONIZING RADIATION SCID, AUT REC, T CELL-NEGATIVE, B CELL+, NK CELL+ SECKEL SYNDROME 1 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE SENIOR-LOKEN SYNDROME 1 SENIOR-LOKEN SYNDROME 5 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, AUT REC, T CELL, B CELL+, NK CELL SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED SHWACHMAN-DIAMOND SYNDROME SIALURIA, FINNISH TYPE SICKLE CELL ANEMIA SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 SJOGREN-LARSSON SYNDROME SKIN FRAGILITY-WOOLLY HAIR SYNDROME SMITH-LEMLI-OPITZ SYNDROME SCNN1A SCNN1B SCNN1G SRD5A2 CTSK PNPO PC PDHX PDP1 PKLR FAM20C NPHP3 PQBP1 SFTPB SFTPC MECP2 PEX7 AGPS SEPN1 ESCO2 HEXB SLC35D1 NHEJ1 CD3D ATR TH NPHP1 IQCB1 LIG4 ADA JAK3 RAG1 RAG2 IL2RG SBDS SLC17A5 HBB GPC3 OFD1 ALDH3A2 DSP DHCR7

14 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE SPASTIC PARAPLEGIA 2, X-LINKED SPINAL MUSCULAR ATROPHY TYPE I SPINAL MUSCULAR ATROPHY TYPE II SPINAL MUSCULAR ATROPHY TYPE III SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 SPINAL MUSCULAR ATROPHY, X-LINKED 2 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME STRIATONIGRAL DEGENERATION, INFANTILE STUVE-WIEDEMANN SYNDROME SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME SULFOCYSTEINURIA SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 TAY-SACHS DISEASE T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY TETRA-AMELIA, AUTOSOMAL RECESSIVE THALASSEMIA MAJOR THROMBOTIC THROMBOCYTOPENIC PURPURA, TIGHT SKIN CONTRACTURE SYNDROME, LETHAL TRICHOTHIODYSTROPHY, PHOTOSENSITIVE TRICHOTHIODYSTROPHY, PHOTOSENSITIVE TRICHOTHIODYSTROPHY, PHOTOSENSITIVE TRIFUNCTIONAL PROTEIN DEFICIENCY TRIFUNCTIONAL PROTEIN DEFICIENCY TYROSINEMIA, TYPE I ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY Usher syndrome type 3A USHER SYNDROME, TYPE I USHER SYNDROME, TYPE IC USHER SYNDROME, TYPE ID USHER SYNDROME, TYPE IG USHER SYNDROME, TYPE IIA USHER SYNDROME, TYPE IIC VITAMIN D-DEPENDENT osteopenia, TYPE I VITAMIN D-DEPENDENT osteopenia, TYPE II VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF WAARDENBURG-SHAH SYNDROME WAARDENBURG-SHAH SYNDROME SACS PLP1 SMN1 SMN1 SMN1 IGHMBP2 PLEKHG5 UBA1 WNT7A SHROOM4 NUP62 LIFR ALDH5A1 TSPYL1 SUOX SFTPB ABCA3 HEXA FOXN1 WNT3 HBB ADAMTS13 ZMPSTE24 ERCC2 ERCC3 GTF2H5 HADHA HADHB FAH WNT7A CLRN1 MYO7A USH1C CDH23 USH1G USH2A GPR98 CYP27B1 VDR TTPA EDN3 EDNRB

15 WALKER-WARBURG SYNDROME WALKER-WARBURG SYNDROME WARBURG MICRO SYNDROME WILSON DISEASE WISKOTT-ALDRICH SYNDROME XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G X-linked Asperger syndrome-2 X-linked mental retardation X-linked mental retardation ZELLWEGER SYNDROME ZELLWEGER SYNDROME ZS POMT1 POMT2 RAB3GAP1 ATP7B WAS XPA ERCC3 XPC ERCC2 DDB2 ERCC4 ERCC5 NLGN4 NXF5 RPL10 PEX12 PEX1