hgnc_id gene_symbol omim_id omim_title omim_phenotype mode_of_inheritance lethality_category_hpo disease_gene_lethal gene_lethal gene_lethal_summary all_lethality_categories earliest_lethality_category merged_earliest_lethality_category HGNC:160 ACTL6B 618468 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 Developmental and epileptic encephalopathy 76 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:160 ACTL6B 618470 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS Intellectual developmental disorder with severe speech and ambulation defects Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:9722 ALDH18A1 219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA Cutis laxa, autosomal recessive, type IIIA Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:9722 ALDH18A1 601162 SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT Spastic paraplegia 9A, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:9722 ALDH18A1 616586 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE Spastic paraplegia 9B, autosomal recessive Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:9722 ALDH18A1 616603 CUTIS LAXA, AUTOSOMAL DOMINANT 3 Cutis laxa, autosomal dominant 3 Autosomal dominant L4 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:23161 ALG8 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih Congenital disorder of glycosylation, type Ih Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:23161 ALG8 617874 POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS Polycystic liver disease 3 with or without kidney cysts Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3706 ATP8B1 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 Cholestasis, intrahepatic, of pregnancy, 1 Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3706 ATP8B1 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 Cholestasis, progressive familial intrahepatic 1 Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3706 ATP8B1 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 Cholestasis, benign recurrent intrahepatic Autosomal recessive - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:15832 BSCL2 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 Lipodystrophy, congenital generalized, type 2 Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:15832 BSCL2 270685 SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT Silver spastic paraplegia syndrome Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:15832 BSCL2 615924 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY Encephalopathy, progressive, with or without lipodystrophy Autosomal recessive L4 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:15832 BSCL2 619112 NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13 Neuronopathy, distal hereditary motor, autosomal dominant 13 Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:16393 CARD11 615206 IMMUNODEFICIENCY 11A Immunodeficiency 11A Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:16393 CARD11 616452 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY B-cell expansion with NFKB and T-cell anergy Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:16393 CARD11 617638 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS Immunodeficiency 11B with atopic dermatitis Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:1750 CDH11 211380 ELSAHY-WATERS SYNDROME Elsahy-Waters syndrome Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:1750 CDH11 619736 TEEBI HYPERTELORISM SYNDROME 2 Teebi hypertelorism syndrome 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:1802 CDSN 146520 HYPOTRICHOSIS 2 Hypotrichosis 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:1802 CDSN 270300 PEELING SKIN SYNDROME 1 Peeling skin syndrome 1 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:1955 CHRNA1 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Multiple pterygium syndrome, lethal type Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:1955 CHRNA1 601462 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL Myasthenic syndrome, congenital, 1A, slow-channel Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:1955 CHRNA1 608930 MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL Myasthenic syndrome, congenital, 1B, fast-channel Autosomal dominant, Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:2025 CLCN7 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 Osteopetrosis, autosomal dominant 2 Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:2025 CLCN7 611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 Osteopetrosis, autosomal recessive 4 Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:2025 CLCN7 618541 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT Hypopigmentation, organomegaly, and delayed myelination and development Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:2186 COL11A1 154780 MARSHALL SYNDROME Marshall syndrome Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:2186 COL11A1 228520 FIBROCHONDROGENESIS 1 Fibrochondrogenesis 1 Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:2186 COL11A1 604841 STICKLER SYNDROME, TYPE II Stickler syndrome, type II Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:2186 COL11A1 618533 DEAFNESS, AUTOSOMAL DOMINANT 37 Deafness, autosomal dominant 37 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:2198 COL1A2 166210 OSTEOGENESIS IMPERFECTA, TYPE II Osteogenesis imperfecta, type II Autosomal dominant L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L2|L4|L5 L2 pre-infant-lethal HGNC:2198 COL1A2 166220 OSTEOGENESIS IMPERFECTA, TYPE IV Osteogenesis imperfecta, type IV Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L2|L4|L5 L2 pre-infant-lethal HGNC:2198 COL1A2 225320 EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE Ehlers-Danlos syndrome, cardiac valvular type Autosomal recessive L4 lethal ambiguous|lethal|nonlethal lethal|nonlethal L2|L4|L5 L2 pre-infant-lethal HGNC:2198 COL1A2 259420 OSTEOGENESIS IMPERFECTA, TYPE III Osteogenesis imperfecta, type III Autosomal dominant L5 lethal ambiguous|lethal|nonlethal lethal|nonlethal L2|L4|L5 L2 pre-infant-lethal HGNC:2198 COL1A2 617821 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 Ehlers-Danlos syndrome, arthrochalasia type, 2 Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2|L4|L5 L2 pre-infant-lethal HGNC:2198 COL1A2 619120 COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2|L4|L5 L2 pre-infant-lethal HGNC:2389 CRYAB 608810 MYOPATHY, MYOFIBRILLAR, 2 Myopathy, myofibrillar, 2 Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:2389 CRYAB 613763 CATARACT 16, MULTIPLE TYPES Cataract 16, multiple types Autosomal dominant, Autosomal recessive - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:2389 CRYAB 613869 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:2389 CRYAB 615184 CARDIOMYOPATHY, DILATED, 1II Cardiomyopathy, dilated, 1II Autosomal dominant L6 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:2731 DDR2 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE Spondylometaepiphyseal dysplasia, short limb-hand type Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:2731 DDR2 618175 WARBURG-CINOTTI SYNDROME Warburg-Cinotti syndrome Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:2974 DNM2 160150 MYOPATHY, CENTRONUCLEAR, 1 Centronuclear myopathy 1 Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:2974 DNM2 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B Charcot-Marie-Tooth disease, axonal type 2M Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:2974 DNM2 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B Charcot-Marie-Tooth disease, dominant intermediate B Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:2974 DNM2 615368 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 Lethal congenital contracture syndrome 5 Autosomal recessive L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:3052 DSP 605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA Cardiomyopathy, dilated, with woolly hair and keratoderma Autosomal recessive LU lethal lethal|nonlethal lethal|nonlethal L2|L4|L5|LU L2 pre-infant-lethal HGNC:3052 DSP 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 Arrhythmogenic right ventricular dysplasia 8 Autosomal dominant L5 lethal lethal|nonlethal lethal|nonlethal L2|L4|L5|LU L2 pre-infant-lethal HGNC:3052 DSP 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC Epidermolysis bullosa, lethal acantholytic Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2|L4|L5|LU L2 pre-infant-lethal HGNC:3052 DSP 612908 KERATOSIS PALMOPLANTARIS STRIATA II Keratosis palmoplantaris striata II Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2|L4|L5|LU L2 pre-infant-lethal HGNC:3052 DSP 615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis Autosomal dominant L4 lethal lethal|nonlethal lethal|nonlethal L2|L4|L5|LU L2 pre-infant-lethal HGNC:14415 ELOVL4 133190 SPINOCEREBELLAR ATAXIA 34 Spinocerebellar ataxia 34 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:14415 ELOVL4 600110 STARGARDT DISEASE 3 Stargardt disease 3 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:14415 ELOVL4 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT Ichthyosis, spastic quadriplegia, and impaired intellectual development Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3356 ENPP1 208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 Arterial calcification, generalized, of infancy, 1 Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:3356 ENPP1 613312 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 Hypophosphatemic rickets, autosomal recessive, 2 Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:3356 ENPP1 615522 COLE DISEASE Cole disease Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:11529 EPCAM 613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL Diarrhea 5, with tufting enteropathy, congenital Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:11529 EPCAM 613244 LYNCH SYNDROME 8 Lynch syndrome 8 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3602 FBLN5 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Cutis laxa, autosomal recessive, type IA Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3602 FBLN5 608895 MACULAR DEGENERATION, AGE-RELATED, 3 Macular degeneration, age-related, 3 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3602 FBLN5 608895 MACULAR DEGENERATION, AGE-RELATED, 3 Neuropathy, hereditary, with or without age-related macular degeneration Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3602 FBLN5 619764 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H Charcot-Marie-Tooth disease, demyelinating, type 1H Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:16873 FIG4 216340 YUNIS-VARON SYNDROME Yunis-Varon syndrome Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:16873 FIG4 611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J Charcot-Marie-Tooth disease, type 4J Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:16873 FIG4 612577 AMYOTROPHIC LATERAL SCLEROSIS 11 Amyotrophic lateral sclerosis 11 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:23399 FREM1 248450 MANITOBA OCULOTRICHOANAL SYNDROME Manitoba oculotrichoanal syndrome Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:23399 FREM1 608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES Bifid nose with or without anorectal and renal anomalies Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:23399 FREM1 614485 TRIGONOCEPHALY 2 Trigonocephaly 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:4214 GDF1 208530 RIGHT ATRIAL ISOMERISM Right atrial isomerism (Ivemark) Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:4214 GDF1 613854 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 Congenital heart defects, multiple types, 6 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:4220 GDF5 112600 BRACHYDACTYLY, TYPE A2 Brachydactyly, type A2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4220 GDF5 113100 BRACHYDACTYLY, TYPE C Brachydactyly, type C Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4220 GDF5 200700 ACROMESOMELIC DYSPLASIA 2A Acromesomelic dysplasia 2A Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4220 GDF5 228900 ACROMESOMELIC DYSPLASIA 2B Acromesomelic dysplasia 2B Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4220 GDF5 610017 MULTIPLE SYNOSTOSES SYNDROME 2 Multiple synostoses syndrome 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4220 GDF5 615072 BRACHYDACTYLY, TYPE A1, C Brachydactyly, type A1, C Autosomal dominant, Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4220 GDF5 615298 SYMPHALANGISM, PROXIMAL, 1B Symphalangism, proximal, 1B Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:4584 GRIN1 614254 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:4584 GRIN1 617820 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:4584 GRIN1 619814 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 Developmental and epileptic encephalopathy 101 Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:4688 GUCY2C 614616 DIARRHEA 6 Diarrhea 6 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:4688 GUCY2C 614665 MECONIUM ILEUS Meconium ileus Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:4827 HBB 140700 HEINZ BODY ANEMIAS Heinz body anemia Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 Delta-beta thalassemia Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 Hereditary persistence of fetal hemoglobin Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 603902 BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE Thalassemia-beta, dominant inclusion-body Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 603903 SICKLE CELL DISEASE Sickle cell disease Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 613985 BETA-THALASSEMIA Thalassemia, beta - L6 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 617971 METHEMOGLOBINEMIA, BETA TYPE Methemoglobinemia, beta type Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:4827 HBB 617980 ERYTHROCYTOSIS, FAMILIAL, 6 Erythrocytosis, familial, 6 Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:5261 HSPD1 605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT Spastic paraplegia 13, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:5261 HSPD1 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4 Leukodystrophy, hypomyelinating, 4 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:6091 INSR 246200 DONOHUE SYNDROME Donohue syndrome Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:6091 INSR 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES Rabson-Mendenhall syndrome Autosomal recessive L4 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:6091 INSR 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 Hyperinsulinemic hypoglycemia, familial, 5 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:6091 INSR 610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS Diabetes mellitus, insulin-resistant, with acanthosis nigricans - - nonlethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:29508 KIDINS220 617296 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic paraplegia, intellectual disability, nystagmus, and obesity Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:29508 KIDINS220 619501 VENTRICULOMEGALY AND ARTHROGRYPOSIS Ventriculomegaly and arthrogryposis Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:15646 KLHL7 612943 RETINITIS PIGMENTOSA 42 Retinitis pigmentosa 42 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:15646 KLHL7 617055 PERCHING SYNDROME PERCHING syndrome Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:6442 KRT5 131960 EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION Epidermolysis bullosa simplex 2F, with mottled pigmentation Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6442 KRT5 179850 DOWLING-DEGOS DISEASE 1 Dowling-Degos disease 1 Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6442 KRT5 609352 EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA Epidermolysis bullosa simplex 2E, with migratory circinate erythema Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6442 KRT5 619555 EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE Epidermolysis bullosa simplex 2A, generalized severe Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6442 KRT5 619588 EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE Epidermolysis bullosa simplex 2B, generalized intermediate Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6442 KRT5 619594 EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED Epidermolysis bullosa simplex 2C, localized Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6442 KRT5 619599 EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive Autosomal recessive L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6490 LAMB3 104530 AMELOGENESIS IMPERFECTA, TYPE IA Amelogenesis imperfecta, type IA Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6490 LAMB3 226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE Epidermolysis bullosa, junctional 1A, intermediate Autosomal recessive - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6490 LAMB3 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE Epidermolysis bullosa, junctional 1B, severe Autosomal recessive L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6518 LBR 169400 PELGER-HUET ANOMALY Pelger-Huet anomaly Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:6518 LBR 215140 GREENBERG DYSPLASIA Greenberg skeletal dysplasia Autosomal recessive L1 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:6518 LBR 618019 RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly Autosomal recessive - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:6636 LMNA 115200 CARDIOMYOPATHY, DILATED, 1A Cardiomyopathy, dilated, 1A Autosomal dominant L6 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 Lipodystrophy, familial partial, type 2 Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME Hutchinson-Gilford progeria Autosomal dominant L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT Emery-Dreifuss muscular dystrophy 2, autosomal dominant Autosomal dominant L6 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM Malouf syndrome Autosomal dominant L1 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY Mandibuloacral dysplasia Autosomal recessive L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 Charcot-Marie-Tooth disease, type 2B1 Autosomal recessive - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 610140 HEART-HAND SYNDROME, SLOVENIAN TYPE Heart-hand syndrome, Slovenian type Autosomal dominant L6 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED Muscular dystrophy, congenital Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 616516 EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE Emery-Dreifuss muscular dystrophy 3, autosomal recessive Autosomal recessive - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6636 LMNA 619793 RESTRICTIVE DERMOPATHY 2 Restrictive dermopathy 2 - L2 lethal ambiguous|lethal|nonlethal lethal|nonlethal L1|L2|L6 L1 pre-infant-lethal HGNC:6742 LZTR1 605275 NOONAN SYNDROME 2 Noonan syndrome 2 Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:6742 LZTR1 616564 NOONAN SYNDROME 10 Noonan syndrome 10 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:7325 MSH2 120435 LYNCH SYNDROME 1 Lynch syndrome 1 Autosomal dominant - nonlethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:7325 MSH2 158320 MUIR-TORRE SYNDROME Muir-Torre syndrome Autosomal dominant - ambiguous ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:7325 MSH2 619096 MISMATCH REPAIR CANCER SYNDROME 2 Mismatch repair cancer syndrome 2 Autosomal recessive L3 lethal ambiguous|lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:7549 MYBPC1 614335 ARTHROGRYPOSIS, DISTAL, TYPE 1B Arthrogryposis, distal, type 1B Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:7549 MYBPC1 614915 LETHAL CONGENITAL CONTRACTURE SYNDROME 4 Lethal congenital contracture syndrome 4 Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:7549 MYBPC1 618524 CONGENITAL MYOPATHY 16 Congenital myopathy 16 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:7569 MYH11 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4 Aortic aneurysm, familial thoracic 4 Autosomal dominant L6 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:7569 MYH11 619350 VISCERAL MYOPATHY 2 Visceral myopathy 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:7569 MYH11 619351 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:7577 MYH7 160500 MYOPATHY, DISTAL, 1 Laing distal myopathy Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1|L6 L1 pre-infant-lethal HGNC:7577 MYH7 255160 CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE Congenital myopathy 7B, myosin storage, autosomal recessive Autosomal recessive L6 lethal lethal|nonlethal lethal|nonlethal L1|L6 L1 pre-infant-lethal HGNC:7577 MYH7 608358 CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT Congenital myopathy 7A, myosin storage, autosomal dominant Autosomal dominant L6 lethal lethal|nonlethal lethal|nonlethal L1|L6 L1 pre-infant-lethal HGNC:7577 MYH7 613426 CARDIOMYOPATHY, DILATED, 1S Cardiomyopathy, dilated, 1S Autosomal dominant L1 lethal lethal|nonlethal lethal|nonlethal L1|L6 L1 pre-infant-lethal HGNC:7577 MYH7 613426 CARDIOMYOPATHY, DILATED, 1S Left ventricular noncompaction 5 Autosomal dominant L1 lethal lethal|nonlethal lethal|nonlethal L1|L6 L1 pre-infant-lethal HGNC:25896 ORAI1 612782 IMMUNODEFICIENCY 9 Immunodeficiency 9 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:25896 ORAI1 615883 MYOPATHY, TUBULAR AGGREGATE, 2 Myopathy, tubular aggregate, 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:8977 PIK3CD 615513 IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT Immunodeficiency 14A, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:8977 PIK3CD 619281 IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE Immunodeficiency 14B, autosomal recessive Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:9020 PKLR 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES Adenosine triphosphate, elevated, of erythrocytes Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9020 PKLR 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS Pyruvate kinase deficiency Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9069 PLEC 131950 EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE Epidermolysis bullosa simplex 5A, Ogna type Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2|L3|L6 L2 pre-infant-lethal HGNC:9069 PLEC 226670 EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY Epidermolysis bullosa simplex 5B, with muscular dystrophy Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2|L3|L6 L2 pre-infant-lethal HGNC:9069 PLEC 612138 EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA Epidermolysis bullosa simplex 5C, with pyloric atresia Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L2|L3|L6 L2 pre-infant-lethal HGNC:9069 PLEC 613723 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 Muscular dystrophy, limb-girdle, autosomal recessive 17 Autosomal recessive L6 lethal lethal|nonlethal lethal|nonlethal L2|L3|L6 L2 pre-infant-lethal HGNC:23166 PNPT1 608703 SPINOCEREBELLAR ATAXIA 25 Spinocerebellar ataxia 25 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:23166 PNPT1 614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 Combined oxidative phosphorylation deficiency 13 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:23166 PNPT1 614934 DEAFNESS, AUTOSOMAL RECESSIVE 70, WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:9179 POLG 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 Progressive external ophthalmoplegia, autosomal dominant 1 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2|L3|L5|L6 L2 pre-infant-lethal HGNC:9179 POLG 203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Mitochondrial DNA depletion syndrome 4A (Alpers type) Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L2|L3|L5|L6 L2 pre-infant-lethal HGNC:9179 POLG 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 Progressive external ophthalmoplegia, autosomal recessive 1 Autosomal recessive L6 lethal lethal|nonlethal lethal|nonlethal L2|L3|L5|L6 L2 pre-infant-lethal HGNC:9179 POLG 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Autosomal recessive L5 lethal lethal|nonlethal lethal|nonlethal L2|L3|L5|L6 L2 pre-infant-lethal HGNC:9179 POLG 613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2|L3|L5|L6 L2 pre-infant-lethal HGNC:9456 PROS1 612336 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Thrombophilia 5 due to protein S deficiency, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:9456 PROS1 614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE Thrombophilia 5 due to protein S deficiency, autosomal recessive Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:9608 PTH1R 125350 FAILURE OF TOOTH ERUPTION, PRIMARY Failure of tooth eruption, primary Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9608 PTH1R 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Metaphyseal chondrodysplasia, Murk Jansen type Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9608 PTH1R 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE Chondrodysplasia, Blomstrand type Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9608 PTH1R 600002 EIKEN SYNDROME Eiken syndrome Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9958 REN 267430 RENAL TUBULAR DYSGENESIS Renal tubular dysgenesis Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:9958 REN 613092 TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 Tubulointerstitial kidney disease, autosomal dominant, 4 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:17296 RRM2B 268315 ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction Autosomal recessive L4 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:17296 RRM2B 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:17296 RRM2B 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) Mitochondrial DNA depletion syndrome 8B (MNGIE type) Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:17296 RRM2B 613077 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:10483 RYR1 117000 CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1|LU L1 pre-infant-lethal HGNC:10483 RYR1 255320 CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE Congenital myopathy 1B, autosomal recessive Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1|LU L1 pre-infant-lethal HGNC:10483 RYR1 619542 KING-DENBOROUGH SYNDROME King-Denborough syndrome Autosomal dominant LU lethal lethal|nonlethal lethal|nonlethal L1|LU L1 pre-infant-lethal HGNC:10586 SCN1B 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 Generalized epilepsy with febrile seizures plus, type 1 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:10586 SCN1B 612838 BRUGADA SYNDROME 5 Brugada syndrome 5 - L6 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:10586 SCN1B 612838 BRUGADA SYNDROME 5 Cardiac conduction defect, nonspecific - L6 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:10586 SCN1B 615377 ATRIAL FIBRILLATION, FAMILIAL, 13 Atrial fibrillation, familial, 13 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:10586 SCN1B 617350 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 Developmental and epileptic encephalopathy 52 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:10591 SCN4A 168300 PARAMYOTONIA CONGENITA Paramyotonia congenita Autosomal dominant L3 lethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10591 SCN4A 170500 HYPERKALEMIC PERIODIC PARALYSIS Hyperkalemic periodic paralysis Autosomal dominant L3 lethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10591 SCN4A 608390 MYOTONIA, POTASSIUM-AGGRAVATED Myotonia congenita, atypical, acetazolamide-responsive Autosomal dominant L3 lethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10591 SCN4A 613345 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 Hypokalemic periodic paralysis, type 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10591 SCN4A 614198 MYASTHENIC SYNDROME, CONGENITAL, 16 Myasthenic syndrome, congenital, 16 Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10591 SCN4A 620351 CONGENITAL MYOPATHY 22A, CLASSIC Congenital myopathy 22A, classic Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10591 SCN4A 620369 CONGENITAL MYOPATHY 22B, SEVERE FETAL Congenital myopathy 22B, severe fetal Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1|L2|L3 L1 pre-infant-lethal HGNC:10599 SCNN1A 264350 PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE Pseudohypoaldosteronism, type IB1, autosomal recessive Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:10599 SCNN1A 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 Bronchiectasis with or without elevated sweat chloride 2 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:10680 SDHA 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 Mitochondrial complex II deficiency, nuclear type 1 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:10680 SDHA 613642 CARDIOMYOPATHY, DILATED, 1GG Cardiomyopathy, dilated, 1GG Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:10680 SDHA 614165 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 Pheochromocytoma/paraganglioma syndrome 5 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:10680 SDHA 619259 NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY Neurodegeneration with ataxia and late-onset optic atrophy Autosomal dominant L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:10911 SLC12A2 619080 KILQUIST SYNDROME Kilquist syndrome Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:10911 SLC12A2 619081 DEAFNESS, AUTOSOMAL DOMINANT 78 Deafness, autosomal dominant 78 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:10911 SLC12A2 619083 DELPIRE-MCNEILL SYNDROME Delpire-McNeill syndrome Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:95 SLC33A1 612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT Spastic paraplegia 42, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:95 SLC33A1 614482 HUPPKE-BRENDEL SYNDROME Huppke-Brendel syndrome Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:14025 SLC5A7 158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7 Neuronopathy, distal hereditary motor, autosomal dominant 7 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:14025 SLC5A7 617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC Myasthenic syndrome, congenital, 20, presynaptic Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:11362 STAT1 613796 IMMUNODEFICIENCY 31B Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:11362 STAT1 614162 IMMUNODEFICIENCY 31C Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant Autosomal dominant L4 lethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:11362 STAT1 614892 IMMUNODEFICIENCY 31A Immunodeficiency 31A, mycobacteriosis, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L4 L3 pre-infant-lethal HGNC:11386 STIM1 160565 MYOPATHY, TUBULAR AGGREGATE, 1 Myopathy, tubular aggregate, 1 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:11386 STIM1 185070 STORMORKEN SYNDROME Stormorken syndrome Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:11386 STIM1 612783 IMMUNODEFICIENCY 10 Immunodeficiency 10 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:17089 SYNE1 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 Spinocerebellar ataxia, autosomal recessive 8 Autosomal recessive L6 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:17089 SYNE1 612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:17089 SYNE1 618484 ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3|L6 L3 pre-infant-lethal HGNC:29203 TBC1D24 220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME DOORS syndrome Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2|L3 L2 pre-infant-lethal HGNC:29203 TBC1D24 605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Myoclonic epilepsy, infantile, familial Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L2|L3 L2 pre-infant-lethal HGNC:29203 TBC1D24 608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L2|L3 L2 pre-infant-lethal HGNC:29203 TBC1D24 614617 DEAFNESS, AUTOSOMAL RECESSIVE 86 Deafness, autosomal recessive 86 Autosomal recessive - nonlethal lethal|nonlethal lethal|nonlethal L2|L3 L2 pre-infant-lethal HGNC:29203 TBC1D24 615338 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 Developmental and epileptic encephalopathy 16 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L2|L3 L2 pre-infant-lethal HGNC:29203 TBC1D24 616044 DEAFNESS, AUTOSOMAL DOMINANT 65 Deafness, autosomal dominant 65 Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2|L3 L2 pre-infant-lethal HGNC:3098 TOR1A 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT Dystonia-1, torsion Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:3098 TOR1A 618947 ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 Arthrogryposis multiplex congenita 5 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:23663 VKORC1 122700 COUMARIN RESISTANCE Warfarin resistance Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:23663 VKORC1 607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Vitamin K-dependent clotting factors, combined deficiency of, 2 Autosomal recessive L2 lethal lethal|nonlethal lethal|nonlethal L2 L2 pre-infant-lethal HGNC:28984 WASHC5 220210 RITSCHER-SCHINZEL SYNDROME 1 Ritscher-Schinzel syndrome 1 Autosomal recessive L1 lethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:28984 WASHC5 603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT Spastic paraplegia 8, autosomal dominant Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L1 L1 pre-infant-lethal HGNC:12840 YARS1 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C Charcot-Marie-Tooth disease, dominant intermediate C Autosomal dominant - nonlethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal HGNC:12840 YARS1 619418 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 Autosomal recessive L3 lethal lethal|nonlethal lethal|nonlethal L3 L3 pre-infant-lethal