Human Phenotype Ontology 
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Phenotypic variability (HP:0003812)help
Term ID: 3812
Name: Phenotypic variability
Synonym: Clinical heterogeneity; Highly variable clinical phenotype; Highly variable phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Variable phenotype; Variable phenotypic severity
Definition: A variability of phenotypic features.
Comments:
Reference: HP:0003812
Genes and Diseases:
 
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................... HP:0003831 Age-dependent penetrance

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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003812HP:0003812Phenotypic variability0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0003812HP:0003812Phenotypic variability0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 127
HP:0003812HP:0003812Phenotypic variability0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0003812HP:0003812Phenotypic variability0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive86
HP:0003812HP:0003812Phenotypic variability0AGK CL E G H5575021869OMIM:212350Sengers syndrome82
HP:0003812HP:0003812Phenotypic variability0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0003812HP:0003812Phenotypic variability0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0003812HP:0003812Phenotypic variability0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0003812HP:0003812Phenotypic variability0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0003812HP:0003812Phenotypic variability0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0003812HP:0003812Phenotypic variability0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency10
HP:0003812HP:0003812Phenotypic variability0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0003812HP:0003812Phenotypic variability0CD3E CL E G H9161674OMIM:615615Immunodeficiency 1824
HP:0003812HP:0003812Phenotypic variability0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0003812HP:0003812Phenotypic variability0CFD CL E G H16752771OMIM:613912Complement factor D deficiency4
HP:0003812HP:0003812Phenotypic variability0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0003812HP:0003812Phenotypic variability0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive15
HP:0003812HP:0003812Phenotypic variability0CLPX CL E G H108452088OMIM:618015Protoporphyria, erythropoietic, 2
HP:0003812HP:0003812Phenotypic variability0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0003812HP:0003812Phenotypic variability0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0003812HP:0003812Phenotypic variability0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0003812HP:0003812Phenotypic variability0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4136
HP:0003812HP:0003812Phenotypic variability0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 2157
HP:0003812HP:0003812Phenotypic variability0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0003812HP:0003812Phenotypic variability0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation60
HP:0003812HP:0003812Phenotypic variability0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0003812HP:0003812Phenotypic variability0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0003812HP:0003812Phenotypic variability0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency7
HP:0003812HP:0003812Phenotypic variability0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 13
HP:0003812HP:0003812Phenotypic variability0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0003812HP:0003812Phenotypic variability0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0003812HP:0003812Phenotypic variability0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0003812HP:0003812Phenotypic variability0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0003812HP:0003812Phenotypic variability0EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 73
HP:0003812HP:0003812Phenotypic variability0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0003812HP:0003812Phenotypic variability0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0003812HP:0003812Phenotypic variability0EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1135
HP:0003812HP:0003812Phenotypic variability0F10 CL E G H21593528OMIM:227600Factor X deficiency33
HP:0003812HP:0003812Phenotypic variability0F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency44
HP:0003812HP:0003812Phenotypic variability0F7 CL E G H21553544OMIM:227500Factor VII deficiency70
HP:0003812HP:0003812Phenotypic variability0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003812HP:0003812Phenotypic variability0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 473
HP:0003812HP:0003812Phenotypic variability0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0003812HP:0003812Phenotypic variability0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0003812HP:0003812Phenotypic variability0FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital111
HP:0003812HP:0003812Phenotypic variability0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0003812HP:0003812Phenotypic variability0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0003812HP:0003812Phenotypic variability0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4184
HP:0003812HP:0003812Phenotypic variability0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0003812HP:0003812Phenotypic variability0GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalities29
HP:0003812HP:0003812Phenotypic variability0GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia29
HP:0003812HP:0003812Phenotypic variability0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0003812HP:0003812Phenotypic variability0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0003812HP:0003812Phenotypic variability0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0003812HP:0003812Phenotypic variability0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0003812HP:0003812Phenotypic variability0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome173
HP:0003812HP:0003812Phenotypic variability0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0003812HP:0003812Phenotypic variability0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0003812HP:0003812Phenotypic variability0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0003812HP:0003812Phenotypic variability0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0003812HP:0003812Phenotypic variability0GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive101
HP:0003812HP:0003812Phenotypic variability0GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 1124
HP:0003812HP:0003812Phenotypic variability0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0003812HP:0003812Phenotypic variability0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0003812HP:0003812Phenotypic variability0GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 2330
HP:0003812HP:0003812Phenotypic variability0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0003812HP:0003812Phenotypic variability0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0003812HP:0003812Phenotypic variability0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0003812HP:0003812Phenotypic variability0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0003812HP:0003812Phenotypic variability0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0003812HP:0003812Phenotypic variability0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1145
HP:0003812HP:0003812Phenotypic variability0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures114
HP:0003812HP:0003812Phenotypic variability0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0003812HP:0003812Phenotypic variability0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0003812HP:0003812Phenotypic variability0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9276
HP:0003812HP:0003812Phenotypic variability0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 913
HP:0003812HP:0003812Phenotypic variability0KRT81 CL E G H38876458OMIM:158000MONILETHRIX3
HP:0003812HP:0003812Phenotypic variability0KRT83 CL E G H38896460OMIM:158000MONILETHRIX65
HP:0003812HP:0003812Phenotypic variability0KRT86 CL E G H38926463OMIM:158000MONILETHRIX10
HP:0003812HP:0003812Phenotypic variability0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome35
HP:0003812HP:0003812Phenotypic variability0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0003812HP:0003812Phenotypic variability0MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 206
HP:0003812HP:0003812Phenotypic variability0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0003812HP:0003812Phenotypic variability0MCM2 CL E G H41716944OMIM:616968Deafness, autosomal dominant 701
HP:0003812HP:0003812Phenotypic variability0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B203
HP:0003812HP:0003812Phenotypic variability0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0003812HP:0003812Phenotypic variability0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency6
HP:0003812HP:0003812Phenotypic variability0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies29
HP:0003812HP:0003812Phenotypic variability0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0003812HP:0003812Phenotypic variability0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 3412
HP:0003812HP:0003812Phenotypic variability0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0003812HP:0003812Phenotypic variability0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0003812HP:0003812Phenotypic variability0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0003812HP:0003812Phenotypic variability0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 1140
HP:0003812HP:0003812Phenotypic variability0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003812HP:0003812Phenotypic variability0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant117
HP:0003812HP:0003812Phenotypic variability0NRIP1 CL E G H82048001OMIM:618270Congenital anomalies of kidney and urinary tract 31
HP:0003812HP:0003812Phenotypic variability0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0003812HP:0003812Phenotypic variability0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 219
HP:0003812HP:0003812Phenotypic variability0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0003812HP:0003812Phenotypic variability0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency98
HP:0003812HP:0003812Phenotypic variability0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0003812HP:0003812Phenotypic variability0PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII64
HP:0003812HP:0003812Phenotypic variability0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0003812HP:0003812Phenotypic variability0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0003812HP:0003812Phenotypic variability0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0003812HP:0003812Phenotypic variability0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0003812HP:0003812Phenotypic variability0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A79
HP:0003812HP:0003812Phenotypic variability0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0003812HP:0003812Phenotypic variability0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0003812HP:0003812Phenotypic variability0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1213
HP:0003812HP:0003812Phenotypic variability0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2221
HP:0003812HP:0003812Phenotypic variability0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0003812HP:0003812Phenotypic variability0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 549
HP:0003812HP:0003812Phenotypic variability0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency81
HP:0003812HP:0003812Phenotypic variability0PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 62
HP:0003812HP:0003812Phenotypic variability0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0003812HP:0003812Phenotypic variability0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0003812HP:0003812Phenotypic variability0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0003812HP:0003812Phenotypic variability0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0003812HP:0003812Phenotypic variability0RNASEH2B CL E G H7962125671OMIM:610181Aicardi-Goutieres syndrome 234
HP:0003812HP:0003812Phenotypic variability0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome57
HP:0003812HP:0003812Phenotypic variability0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 577
HP:0003812HP:0003812Phenotypic variability0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0003812HP:0003812Phenotypic variability0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0003812HP:0003812Phenotypic variability0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 555
HP:0003812HP:0003812Phenotypic variability0SCN1A CL E G H632310585OMIM:604403Generalized epilepsy with febrile seizures plus, type 21053
HP:0003812HP:0003812Phenotypic variability0SCN2A CL E G H632610588OMIM:613721Epileptic encephalopathy, early infantile, 11427
HP:0003812HP:0003812Phenotypic variability0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16263
HP:0003812HP:0003812Phenotypic variability0SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 367
HP:0003812HP:0003812Phenotypic variability0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0003812HP:0003812Phenotypic variability0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome47
HP:0003812HP:0003812Phenotypic variability0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0003812HP:0003812Phenotypic variability0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 1817
HP:0003812HP:0003812Phenotypic variability0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0003812HP:0003812Phenotypic variability0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0003812HP:0003812Phenotypic variability0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0003812HP:0003812Phenotypic variability0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0003812HP:0003812Phenotypic variability0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0003812HP:0003812Phenotypic variability0SLC2A1 CL E G H651311005OMIM:614847Epilepsy, idiopathic generalized, susceptibility to, 12255
HP:0003812HP:0003812Phenotypic variability0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0003812HP:0003812Phenotypic variability0SLC5A2 CL E G H652411037OMIM:233100Renal glucosuria41
HP:0003812HP:0003812Phenotypic variability0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P274
HP:0003812HP:0003812Phenotypic variability0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant208
HP:0003812HP:0003812Phenotypic variability0SPG21 CL E G H5132420373OMIM:248900Mast syndrome28
HP:0003812HP:0003812Phenotypic variability0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0003812HP:0003812Phenotypic variability0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0003812HP:0003812Phenotypic variability0STX1B CL E G H11275518539OMIM:616172Generalized epilepsy with febrile seizures plus, type 99
HP:0003812HP:0003812Phenotypic variability0SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0003812HP:0003812Phenotypic variability0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0003812HP:0003812Phenotypic variability0TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0003812HP:0003812Phenotypic variability0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive80
HP:0003812HP:0003812Phenotypic variability0TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy23
HP:0003812HP:0003812Phenotypic variability0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0003812HP:0003812Phenotypic variability0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0003812HP:0003812Phenotypic variability0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0003812HP:0003812Phenotypic variability0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003812HP:0003812Phenotypic variability0TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 523
HP:0003812HP:0003812Phenotypic variability0TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 739
HP:0003812HP:0003812Phenotypic variability0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 666
HP:0003812HP:0003812Phenotypic variability0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0003812HP:0003812Phenotypic variability0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0003812HP:0003812Phenotypic variability0VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2Y63
HP:0003812HP:0003812Phenotypic variability0VEGFC CL E G H742412682OMIM:615907Lymphedema, hereditary, ID4
HP:0003812HP:0003812Phenotypic variability0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0003812HP:0003812Phenotypic variability0VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2533
HP:0003812HP:0003812Phenotypic variability0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome8
HP:0003812HP:0003812Phenotypic variability0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28149
HP:0003812HP:0003828Variable expressivity1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0003812HP:0003828Variable expressivity1ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1.27
HP:0003812HP:0003828Variable expressivity1ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 3.3
HP:0003812HP:0003828Variable expressivity1AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0003812HP:0003828Variable expressivity1AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0003812HP:0003828Variable expressivity1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0003812HP:0003828Variable expressivity1ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0003812HP:0003828Variable expressivity1ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0003812HP:0003828Variable expressivity1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0003812HP:0003828Variable expressivity1BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0003812HP:0003828Variable expressivity1CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency.10
HP:0003812HP:0003828Variable expressivity1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0003812HP:0003828Variable expressivity1CD3E CL E G H9161674OMIM:615615Immunodeficiency 18.24
HP:0003812HP:0003828Variable expressivity1CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11.200
HP:0003812HP:0003828Variable expressivity1CFD CL E G H16752771OMIM:613912Complement factor D deficiency.4
HP:0003812HP:0003828Variable expressivity1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003812HP:0003828Variable expressivity1CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0003812HP:0003828Variable expressivity1CLPX CL E G H108452088OMIM:618015Protoporphyria, erythropoietic, 2.
HP:0003812HP:0003828Variable expressivity1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0003812HP:0003828Variable expressivity1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0003812HP:0003828Variable expressivity1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0003812HP:0003828Variable expressivity1COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0003812HP:0003828Variable expressivity1COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0003812HP:0003828Variable expressivity1CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0003812HP:0003828Variable expressivity1DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0003812HP:0003828Variable expressivity1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0003812HP:0003828Variable expressivity1DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities.47
HP:0003812HP:0003828Variable expressivity1DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0003812HP:0003828Variable expressivity1DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 1.3
HP:0003812HP:0003828Variable expressivity1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0003812HP:0003828Variable expressivity1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0003812HP:0003828Variable expressivity1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0003812HP:0003828Variable expressivity1EPHB4 CL E G H20503395OMIM:617300Lymphatic malformation 7.3
HP:0003812HP:0003828Variable expressivity1EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0003812HP:0003828Variable expressivity1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0003812HP:0003828Variable expressivity1EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0003812HP:0003828Variable expressivity1F10 CL E G H21593528OMIM:227600Factor X deficiency.33
HP:0003812HP:0003828Variable expressivity1F2 CL E G H21473535OMIM:613679Congenital prothrombin deficiency.44
HP:0003812HP:0003828Variable expressivity1F7 CL E G H21553544OMIM:227500Factor VII deficiency.70
HP:0003812HP:0003828Variable expressivity1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0003812HP:0003828Variable expressivity1FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0003812HP:0003828Variable expressivity1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0003812HP:0003828Variable expressivity1FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J.111
HP:0003812HP:0003828Variable expressivity1FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital.111
HP:0003812HP:0003828Variable expressivity1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003812HP:0003828Variable expressivity1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003812HP:0003828Variable expressivity1FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0003812HP:0003828Variable expressivity1GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0003812HP:0003828Variable expressivity1GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalities.29
HP:0003812HP:0003828Variable expressivity1GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia.29
HP:0003812HP:0003828Variable expressivity1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0003812HP:0003828Variable expressivity1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003812HP:0003828Variable expressivity1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0003812HP:0003828Variable expressivity1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0003812HP:0003828Variable expressivity1GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome.173
HP:0003812HP:0003828Variable expressivity1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0003812HP:0003828Variable expressivity1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome.270
HP:0003812HP:0003828Variable expressivity1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0003812HP:0003828Variable expressivity1GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0003812HP:0003828Variable expressivity1GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive.101
HP:0003812HP:0003828Variable expressivity1GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 11.24
HP:0003812HP:0003828Variable expressivity1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0003812HP:0003828Variable expressivity1GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 23.30
HP:0003812HP:0003828Variable expressivity1GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia.
HP:0003812HP:0003828Variable expressivity1HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W.
HP:0003812HP:0003828Variable expressivity1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0003812HP:0003828Variable expressivity1IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0003812HP:0003828Variable expressivity1IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0003812HP:0003828Variable expressivity1KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0003812HP:0003828Variable expressivity1KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0003812HP:0003828Variable expressivity1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0003812HP:0003828Variable expressivity1KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0003812HP:0003828Variable expressivity1KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0003812HP:0003828Variable expressivity1KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9.13
HP:0003812HP:0003828Variable expressivity1KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0003812HP:0003828Variable expressivity1KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0003812HP:0003828Variable expressivity1KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0003812HP:0003828Variable expressivity1LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0003812HP:0003828Variable expressivity1LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0003812HP:0003828Variable expressivity1MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 20.6
HP:0003812HP:0003828Variable expressivity1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0003812HP:0003828Variable expressivity1MCM2 CL E G H41716944OMIM:616968Deafness, autosomal dominant 70.1
HP:0003812HP:0003828Variable expressivity1MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0003812HP:0003828Variable expressivity1MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0003812HP:0003828Variable expressivity1MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0003812HP:0003828Variable expressivity1MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0003812HP:0003828Variable expressivity1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0003812HP:0003828Variable expressivity1MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0003812HP:0003828Variable expressivity1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0003812HP:0003828Variable expressivity1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0003812HP:0003828Variable expressivity1ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0003812HP:0003828Variable expressivity1NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0003812HP:0003828Variable expressivity1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0003812HP:0003828Variable expressivity1NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0003812HP:0003828Variable expressivity1NRIP1 CL E G H82048001OMIM:618270Congenital anomalies of kidney and urinary tract 3.1
HP:0003812HP:0003828Variable expressivity1NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0003812HP:0003828Variable expressivity1ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0003812HP:0003828Variable expressivity1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0003812HP:0003828Variable expressivity1PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0003812HP:0003828Variable expressivity1PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0003812HP:0003828Variable expressivity1PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII.64
HP:0003812HP:0003828Variable expressivity1PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 17.1
HP:0003812HP:0003828Variable expressivity1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0003812HP:0003828Variable expressivity1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0003812HP:0003828Variable expressivity1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0003812HP:0003828Variable expressivity1PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0003812HP:0003828Variable expressivity1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0003812HP:0003828Variable expressivity1POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0003812HP:0003828Variable expressivity1POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0003812HP:0003828Variable expressivity1POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.221
HP:0003812HP:0003828Variable expressivity1PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 10.1
HP:0003812HP:0003828Variable expressivity1PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 5.49
HP:0003812HP:0003828Variable expressivity1PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0003812HP:0003828Variable expressivity1PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 6.2
HP:0003812HP:0003828Variable expressivity1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0003812HP:0003828Variable expressivity1RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0003812HP:0003828Variable expressivity1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0003812HP:0003828Variable expressivity1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0003812HP:0003828Variable expressivity1RNASEH2B CL E G H7962125671OMIM:610181Aicardi-Goutieres syndrome 2.34
HP:0003812HP:0003828Variable expressivity1ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0003812HP:0003828Variable expressivity1RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5.77
HP:0003812HP:0003828Variable expressivity1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0003812HP:0003828Variable expressivity1SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0003812HP:0003828Variable expressivity1SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0003812HP:0003828Variable expressivity1SCN1A CL E G H632310585OMIM:604403Generalized epilepsy with febrile seizures plus, type 2.1053
HP:0003812HP:0003828Variable expressivity1SCN2A CL E G H632610588OMIM:613721Epileptic encephalopathy, early infantile, 11.427
HP:0003812HP:0003828Variable expressivity1SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16.263
HP:0003812HP:0003828Variable expressivity1SCNN1A CL E G H633710599OMIM:618126Liddle syndrome 3.67
HP:0003812HP:0003828Variable expressivity1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0003812HP:0003828Variable expressivity1SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0003812HP:0003828Variable expressivity1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0003812HP:0003828Variable expressivity1SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0003812HP:0003828Variable expressivity1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0003812HP:0003828Variable expressivity1SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 5.67
HP:0003812HP:0003828Variable expressivity1SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor.67
HP:0003812HP:0003828Variable expressivity1SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 28.5
HP:0003812HP:0003828Variable expressivity1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0003812HP:0003828Variable expressivity1SLC2A1 CL E G H651311005OMIM:614847Epilepsy, idiopathic generalized, susceptibility to, 12.255
HP:0003812HP:0003828Variable expressivity1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0003812HP:0003828Variable expressivity1SLC5A2 CL E G H652411037OMIM:233100Renal glucosuria.41
HP:0003812HP:0003828Variable expressivity1SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group P.274
HP:0003812HP:0003828Variable expressivity1SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0003812HP:0003828Variable expressivity1SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0003812HP:0003828Variable expressivity1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0003812HP:0003828Variable expressivity1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0003812HP:0003828Variable expressivity1STX1B CL E G H11275518539OMIM:616172Generalized epilepsy with febrile seizures plus, type 9.9
HP:0003812HP:0003828Variable expressivity1SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K.73
HP:0003812HP:0003828Variable expressivity1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.13
HP:0003812HP:0003828Variable expressivity1TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 5.5
HP:0003812HP:0003828Variable expressivity1TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0003812HP:0003828Variable expressivity1TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy.23
HP:0003812HP:0003828Variable expressivity1TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44
HP:0003812HP:0003828Variable expressivity1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0003812HP:0003828Variable expressivity1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0003812HP:0003828Variable expressivity1TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003812HP:0003828Variable expressivity1TUBB2A CL E G H728012412OMIM:615763Cortical dysplasia, complex, with other brain malformations 5.23
HP:0003812HP:0003828Variable expressivity1TUBB2B CL E G H34773330829OMIM:610031Cortical dysplasia, complex, with other brain malformations 7.39
HP:0003812HP:0003828Variable expressivity1TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0003812HP:0003828Variable expressivity1TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0003812HP:0003828Variable expressivity1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0003812HP:0003828Variable expressivity1VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2Y.63
HP:0003812HP:0003828Variable expressivity1VEGFC CL E G H742412682OMIM:615907Lymphedema, hereditary, ID.4
HP:0003812HP:0003828Variable expressivity1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0003812HP:0003828Variable expressivity1VWF CL E G H745012726OMIM:613554Von willebrand disease, type 2.533
HP:0003812HP:0003828Variable expressivity1WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0003812HP:0003828Variable expressivity1WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28.149


Genes (175) :ACTA1 ACTN4 ADD3 AFG3L2 AGK ANO5 ATL1 ATP6V1A BRPF1 CA5A CANT1 CD3E CDON CFD CHRNE CIT CLPX COL6A1 COL6A2 COL6A3 COQ8A COX1 COX2 COX3 CSPP1 CYTB DAG1 DARS2 DEGS1 DHDDS DHFR DLX5 DNAJC21 DPAGT1 DPM1 EIF2S3 EPHB4 EXOSC2 EXOSC3 EYA1 F10 F2 F7 FBXO38 FGF12 FGFR2 FIG4 FKRP FKTN GABRB2 GATA1 GCH1 GFPT1 GJB6 GLE1 GLI2 GLI3 GM2A GNAS GP6 GRIA4 GRIN2D GTPBP3 GUCY1A1 HARS1 HDAC8 IARS1 IBA57 KCNA1 KCNMA1 KIF11 KIF14 KIF1A KLHL41 KRT81 KRT83 KRT86 LAMA1 LMNA MAPKBP1 MBTPS2 MCM2 MFN2 MPC1 MPDZ MRE11 MRPS7 MYH7 NAA10 ND1 ND5 ND6 NDUFA1 NDUFAF1 NEFH NIPA1 NRIP1 NUP107 ORAI1 PAX3 PDHX PEX2 PFKM PIGH PIGN PITX2 PLAA PMP22 PNPLA2 POLG2 POMT1 POMT2 PRDM8 PRPS1 PSAP PTPRO QDPR RARS1 RHOBTB2 RMND1 RNASEH2B ROGDI RTEL1 RYR1 SAMD9L SAMHD1 SCN1A SCN2A SCN4A SCNN1A SELENON SERAC1 SETX SFXN4 SH3KBP1 SHH SLC25A26 SLC25A46 SLC2A1 SLC52A2 SLC5A2 SLX4 SPAST SPG21 SPR STIM1 STX1B SURF1 TBCK TENM4 TH TMEM126A TNFRSF11B TPM2 TPM3 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TUBB2A TUBB2B TUBB4A TUBB6 TWIST1 VCP VEGFC VPS13D VWF WDR26 WWOX

Diseases (157) :OMIM:255310 OMIM:603278 OMIM:617008 OMIM:614487 OMIM:212350 OMIM:613319 OMIM:611307 OMIM:182600 OMIM:618012 OMIM:617333 OMIM:615751 OMIM:251450 OMIM:615615 OMIM:614226 OMIM:613912 OMIM:608931 OMIM:617090 OMIM:618015 OMIM:254090 OMIM:612016 OMIM:540000 OMIM:615636 OMIM:616538 OMIM:611105 OMIM:618404 OMIM:617836 OMIM:613839 OMIM:183600 OMIM:617052 OMIM:608093 OMIM:608799 OMIM:300148 OMIM:617300 OMIM:617763 OMIM:614678 OMIM:602588 OMIM:227600 OMIM:613679 OMIM:227500 OMIM:615575 OMIM:617166 OMIM:101400 OMIM:611228 OMIM:612691 OMIM:606612 OMIM:607155 OMIM:611588 OMIM:617829 OMIM:300835 OMIM:300367 OMIM:233910 OMIM:129500 OMIM:611890 OMIM:615849 OMIM:610829 OMIM:175700 OMIM:146510 OMIM:272750 OMIM:166350 OMIM:614201 OMIM:617864 OMIM:617162 OMIM:616198 OMIM:615750 OMIM:616625 OMIM:300882 OMIM:617093 OMIM:615330 OMIM:160120 OMIM:617643 OMIM:152950 OMIM:617914 OMIM:614255 OMIM:615731 OMIM:158000 OMIM:615960 OMIM:613205 OMIM:617271 OMIM:308205 OMIM:616968 OMIM:617087 OMIM:609260 OMIM:614741 OMIM:615219 OMIM:604391 OMIM:617872 OMIM:300855 OMIM:301020 OMIM:618234 OMIM:616924 OMIM:600363 OMIM:618270 OMIM:616730 OMIM:615883 OMIM:148820 OMIM:245349 OMIM:614867 OMIM:232800 OMIM:618010 OMIM:614080 OMIM:180500 OMIM:617527 OMIM:118220 OMIM:610717 OMIM:610131 OMIM:609308 OMIM:613158 OMIM:616640 OMIM:311070 OMIM:249900 OMIM:614196 OMIM:261630 OMIM:616140 OMIM:618004 OMIM:614922 OMIM:610181 OMIM:226750 OMIM:615190 OMIM:159550 OMIM:612952 OMIM:604403 OMIM:613721 OMIM:614198 OMIM:618126 OMIM:614739 OMIM:606002 OMIM:615578 OMIM:300310 OMIM:611638 OMIM:147250 OMIM:616794 OMIM:616505 OMIM:614847 OMIM:614707 OMIM:233100 OMIM:613951 OMIM:182601 OMIM:248900 OMIM:612716 OMIM:612783 OMIM:616172 OMIM:616684 OMIM:616900 OMIM:616736 OMIM:605407 OMIM:612989 OMIM:239000 OMIM:615763 OMIM:610031 OMIM:612438 OMIM:617732 OMIM:616687 OMIM:615907 OMIM:607317 OMIM:613554 OMIM:617616 OMIM:616211
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.