Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Cerebral palsy (HP:0100021)help
Term ID: 100021
Name: Cerebral palsy
Synonym: Cerebral paralysis; CP
Definition: Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
Comments:
Reference: HP:0100021
Genes and Diseases:
 
       Child Nodes:
........expandAthetoid cerebral palsy (HP:0011445) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100021HP:0100021Cerebral palsy0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0100021HP:0100021Cerebral palsy0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0100021HP:0100021Cerebral palsy0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0100021HP:0100021Cerebral palsy0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0100021HP:0100021Cerebral palsy0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysis114
HP:0100021HP:0100021Cerebral palsy0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0100021HP:0100021Cerebral palsy0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive3
HP:0100021HP:0100021Cerebral palsy0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0100021HP:0100021Cerebral palsy0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0100021HP:0100021Cerebral palsy0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0100021HP:0100021Cerebral palsy0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0100021HP:0100021Cerebral palsy0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0100021HP:0100021Cerebral palsy0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0100021HP:0100021Cerebral palsy0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0100021HP:0100021Cerebral palsy0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0100021HP:0100021Cerebral palsy0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0100021HP:0100021Cerebral palsy0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent24
HP:0100021HP:0100021Cerebral palsy0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0100021HP:0100021Cerebral palsy0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0100021HP:0100021Cerebral palsy0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0100021HP:0100021Cerebral palsy0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0100021HP:0100021Cerebral palsy0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent8
HP:0100021HP:0100021Cerebral palsy0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.51
HP:0100021HP:0100021Cerebral palsy0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040281 - Very frequent51
HP:0100021HP:0100021Cerebral palsy0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0100021HP:0100021Cerebral palsy0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100021HP:0100021Cerebral palsy0CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare
HP:0100021HP:0100021Cerebral palsy0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0100021HP:0100021Cerebral palsy0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0100021HP:0100021Cerebral palsy0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0100021HP:0100021Cerebral palsy0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0100021HP:0100021Cerebral palsy0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0100021HP:0100021Cerebral palsy0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0100021HP:0100021Cerebral palsy0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0100021HP:0100021Cerebral palsy0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0100021HP:0100021Cerebral palsy0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0100021HP:0100021Cerebral palsy0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0100021HP:0100021Cerebral palsy0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq2
HP:0100021HP:0100021Cerebral palsy0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0100021HP:0100021Cerebral palsy0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3
HP:0100021HP:0100021Cerebral palsy0CPSF3 CL E G H516922326OMIM:619876
HP:0100021HP:0100021Cerebral palsy0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0100021HP:0100021Cerebral palsy0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0100021HP:0100021Cerebral palsy0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0100021HP:0100021Cerebral palsy0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0100021HP:0100021Cerebral palsy0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare36
HP:0100021HP:0100021Cerebral palsy0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040282 - Frequent145
HP:0100021HP:0100021Cerebral palsy0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0100021HP:0100021Cerebral palsy0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare2
HP:0100021HP:0100021Cerebral palsy0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0100021HP:0100021Cerebral palsy0DPH5 CL E G H5161124270OMIM:620070
HP:0100021HP:0100021Cerebral palsy0DTYMK CL E G H18413061OMIM:619847
HP:0100021HP:0100021Cerebral palsy0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0100021HP:0100021Cerebral palsy0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0100021HP:0100021Cerebral palsy0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0100021HP:0100021Cerebral palsy0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100021HP:0100021Cerebral palsy0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0100021HP:0100021Cerebral palsy0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0100021HP:0100021Cerebral palsy0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0100021HP:0100021Cerebral palsy0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0100021HP:0100021Cerebral palsy0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0100021HP:0100021Cerebral palsy0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0100021HP:0100021Cerebral palsy0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0100021HP:0100021Cerebral palsy0GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare23
HP:0100021HP:0100021Cerebral palsy0GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare8
HP:0100021HP:0100021Cerebral palsy0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0100021HP:0100021Cerebral palsy0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0100021HP:0100021Cerebral palsy0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0100021HP:0100021Cerebral palsy0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0100021HP:0100021Cerebral palsy0H4C5 CL E G H83674790OMIM:619950
HP:0100021HP:0100021Cerebral palsy0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0100021HP:0100021Cerebral palsy0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0100021HP:0100021Cerebral palsy0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0100021HP:0100021Cerebral palsy0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0100021HP:0100021Cerebral palsy0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0100021HP:0100021Cerebral palsy0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0100021HP:0100021Cerebral palsy0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0100021HP:0100021Cerebral palsy0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040281 - Very frequent115
HP:0100021HP:0100021Cerebral palsy0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0100021HP:0100021Cerebral palsy0ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare119
HP:0100021HP:0100021Cerebral palsy0ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare69
HP:0100021HP:0100021Cerebral palsy0ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare80
HP:0100021HP:0100021Cerebral palsy0KANK1 CL E G H2318919309OMIM:612900CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ226
HP:0100021HP:0100021Cerebral palsy0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0100021HP:0100021Cerebral palsy0KCNC2 CL E G H37476234OMIM:619913
HP:0100021HP:0100021Cerebral palsy0KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 315
HP:0100021HP:0100021Cerebral palsy0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0100021HP:0100021Cerebral palsy0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures31
HP:0100021HP:0100021Cerebral palsy0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0100021HP:0100021Cerebral palsy0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0100021HP:0100021Cerebral palsy0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0100021HP:0100021Cerebral palsy0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0100021HP:0100021Cerebral palsy0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0100021HP:0100021Cerebral palsy0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0100021HP:0100021Cerebral palsy0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0100021HP:0100021Cerebral palsy0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0100021HP:0100021Cerebral palsy0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0100021HP:0100021Cerebral palsy0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0100021HP:0100021Cerebral palsy0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0100021HP:0100021Cerebral palsy0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100021HP:0100021Cerebral palsy0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0100021HP:0100021Cerebral palsy0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0100021HP:0100021Cerebral palsy0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0100021HP:0100021Cerebral palsy0NRCAM CL E G H48977994OMIM:6198332
HP:0100021HP:0100021Cerebral palsy0NSRP1 CL E G H8408125305OMIM:620001
HP:0100021HP:0100021Cerebral palsy0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare
HP:0100021HP:0100021Cerebral palsy0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0100021HP:0100021Cerebral palsy0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040284 - Very rare4
HP:0100021HP:0100021Cerebral palsy0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0100021HP:0100021Cerebral palsy0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040284 - Very rare24
HP:0100021HP:0100021Cerebral palsy0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications
HP:0100021HP:0100021Cerebral palsy0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency98
HP:0100021HP:0100021Cerebral palsy0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0100021HP:0100021Cerebral palsy0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0100021HP:0100021Cerebral palsy0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency37
HP:0100021HP:0100021Cerebral palsy0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0100021HP:0100021Cerebral palsy0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0100021HP:0100021Cerebral palsy0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040283 - Occasional52
HP:0100021HP:0100021Cerebral palsy0PPFIBP1 CL E G H84969249OMIM:620024
HP:0100021HP:0100021Cerebral palsy0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0100021HP:0100021Cerebral palsy0PRDM13 CL E G H5933613998OMIM:6199092
HP:0100021HP:0100021Cerebral palsy0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0100021HP:0100021Cerebral palsy0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0100021HP:0100021Cerebral palsy0PROC CL E G H56249451OMIM:612304Thrombophilia due to protein C deficiency, autosomal recessive.65
HP:0100021HP:0100021Cerebral palsy0PSMC1 CL E G H57009547OMIM:6200711
HP:0100021HP:0100021Cerebral palsy0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0100021HP:0100021Cerebral palsy0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare9
HP:0100021HP:0100021Cerebral palsy0RANBP2 CL E G H59039848OMIM:608033Encephalopathy, acute, infection-induced, susceptibility to, 357
HP:0100021HP:0100021Cerebral palsy0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathy57
HP:0100021HP:0100021Cerebral palsy0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0100021HP:0100021Cerebral palsy0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0100021HP:0100021Cerebral palsy0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0100021HP:0100021Cerebral palsy0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0100021HP:0100021Cerebral palsy0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0100021HP:0100021Cerebral palsy0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0100021HP:0100021Cerebral palsy0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100021HP:0100021Cerebral palsy0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0100021HP:0100021Cerebral palsy0SCN2A CL E G H632610588OMIM:613721Epileptic encephalopathy, early infantile, 11427
HP:0100021HP:0100021Cerebral palsy0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0100021HP:0100021Cerebral palsy0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040281 - Very frequent263
HP:0100021HP:0100021Cerebral palsy0SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0100021HP:0100021Cerebral palsy0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0100021HP:0100021Cerebral palsy0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66
HP:0100021HP:0100021Cerebral palsy0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100021HP:0100021Cerebral palsy0SHQ1 CL E G H5516425543OMIM:619922
HP:0100021HP:0100021Cerebral palsy0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0100021HP:0100021Cerebral palsy0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0100021HP:0100021Cerebral palsy0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0100021HP:0100021Cerebral palsy0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome110
HP:0100021HP:0100021Cerebral palsy0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0100021HP:0100021Cerebral palsy0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0100021HP:0100021Cerebral palsy0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0100021HP:0100021Cerebral palsy0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0100021HP:0100021Cerebral palsy0SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumorHP:0040283 - Occasional87
HP:0100021HP:0100021Cerebral palsy0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0100021HP:0100021Cerebral palsy0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0100021HP:0100021Cerebral palsy0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0100021HP:0100021Cerebral palsy0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040283 - Occasional28
HP:0100021HP:0100021Cerebral palsy0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5416
HP:0100021HP:0100021Cerebral palsy0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100021HP:0100021Cerebral palsy0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0100021HP:0100021Cerebral palsy0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0100021HP:0100021Cerebral palsy0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 539
HP:0100021HP:0100021Cerebral palsy0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0100021HP:0100021Cerebral palsy0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0100021HP:0100021Cerebral palsy0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0100021HP:0100021Cerebral palsy0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0100021HP:0100021Cerebral palsy0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0100021HP:0100021Cerebral palsy0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0100021HP:0100021Cerebral palsy0TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3106
HP:0100021HP:0100021Cerebral palsy0TUBB2B CL E G H34773330829ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent39
HP:0100021HP:0100021Cerebral palsy0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0100021HP:0100021Cerebral palsy0TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 414
HP:0100021HP:0100021Cerebral palsy0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0100021HP:0100021Cerebral palsy0VLDLR CL E G H743612698ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent111
HP:0100021HP:0100021Cerebral palsy0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0100021HP:0100021Cerebral palsy0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0100021HP:0100021Cerebral palsy0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0100021HP:0100021Cerebral palsy0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0100021HP:0100021Cerebral palsy0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0100021HP:0100021Cerebral palsy0WDR81 CL E G H12499726600ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent27
HP:0100021HP:0100021Cerebral palsy0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0100021HP:0034183Spastic triplegia1 CL E G H
HP:0100021HP:0002510Spastic tetraplegia1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0100021HP:0002510Spastic tetraplegia1ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 3.3
HP:0100021HP:0002510Spastic tetraplegia1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0100021HP:0002510Spastic tetraplegia1ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0100021HP:0002510Spastic tetraplegia1ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0100021HP:0002510Spastic tetraplegia1ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0100021HP:0002510Spastic tetraplegia1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0100021HP:0002510Spastic tetraplegia1AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0100021HP:0002510Spastic tetraplegia1APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0100021HP:0002510Spastic tetraplegia1ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0100021HP:0002510Spastic tetraplegia1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0100021HP:0002510Spastic tetraplegia1ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0100021HP:0002510Spastic tetraplegia1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0100021HP:0002510Spastic tetraplegia1ATP6V0A1 CL E G H535865OMIM:6199711
HP:0100021HP:0002510Spastic tetraplegia1AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0100021HP:0002510Spastic tetraplegia1BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0100021HP:0002510Spastic tetraplegia1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalitiesHP:0040283 - Occasional51
HP:0100021HP:0002510Spastic tetraplegia1CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0100021HP:0011445Athetoid cerebral palsy1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100021HP:0002510Spastic tetraplegia1CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0100021HP:0002510Spastic tetraplegia1CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0100021HP:0002510Spastic tetraplegia1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0100021HP:0002510Spastic tetraplegia1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0100021HP:0002510Spastic tetraplegia1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0100021HP:0002510Spastic tetraplegia1CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60.
HP:0100021HP:0002510Spastic tetraplegia1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0100021HP:0002510Spastic tetraplegia1COG2 CL E G H227966546ORPHA:435934COG2-CDGHP:0040281 - Very frequent2
HP:0100021HP:0002510Spastic tetraplegia1COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0100021HP:0002510Spastic tetraplegia1COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0100021HP:0002510Spastic tetraplegia1COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0100021HP:0002510Spastic tetraplegia1CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0100021HP:0002510Spastic tetraplegia1CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0100021HP:0002510Spastic tetraplegia1CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0100021HP:0002510Spastic tetraplegia1CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0100021HP:0002510Spastic tetraplegia1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0100021HP:0002510Spastic tetraplegia1DPH5 CL E G H5161124270OMIM:620070
HP:0100021HP:0002510Spastic tetraplegia1DTYMK CL E G H18413061OMIM:619847
HP:0100021HP:0002510Spastic tetraplegia1DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0100021HP:0002510Spastic tetraplegia1ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0100021HP:0002510Spastic tetraplegia1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0100021HP:0002510Spastic tetraplegia1FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040282 - Frequent43
HP:0100021HP:0002510Spastic tetraplegia1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0100021HP:0002510Spastic tetraplegia1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0100021HP:0002510Spastic tetraplegia1GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0100021HP:0002510Spastic tetraplegia1GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0100021HP:0002510Spastic tetraplegia1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0100021HP:0002510Spastic tetraplegia1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040282 - Frequent108
HP:0100021HP:0002510Spastic tetraplegia1GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0100021HP:0002510Spastic tetraplegia1H4C5 CL E G H83674790OMIM:619950
HP:0100021HP:0011099Spastic hemiparesis1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0100021HP:0002510Spastic tetraplegia1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0100021HP:0002510Spastic tetraplegia1IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0100021HP:0002510Spastic tetraplegia1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0100021HP:0002510Spastic tetraplegia1KANK1 CL E G H2318919309OMIM:612900CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ226
HP:0100021HP:0002510Spastic tetraplegia1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0100021HP:0002510Spastic tetraplegia1KCNC2 CL E G H37476234OMIM:619913
HP:0100021HP:0002510Spastic tetraplegia1KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 3.15
HP:0100021HP:0002510Spastic tetraplegia1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0100021HP:0002510Spastic tetraplegia1LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0100021HP:0002510Spastic tetraplegia1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0100021HP:0002510Spastic tetraplegia1MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0100021HP:0002510Spastic tetraplegia1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0100021HP:0002510Spastic tetraplegia1MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0100021HP:0002510Spastic tetraplegia1MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0100021HP:0002510Spastic tetraplegia1MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0100021HP:0002510Spastic tetraplegia1MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0100021HP:0002510Spastic tetraplegia1MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0100021HP:0002510Spastic tetraplegia1NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0100021HP:0002510Spastic tetraplegia1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0100021HP:0002510Spastic tetraplegia1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100021HP:0002510Spastic tetraplegia1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0100021HP:0002510Spastic tetraplegia1NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0100021HP:0002510Spastic tetraplegia1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0100021HP:0002510Spastic tetraplegia1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0100021HP:0002510Spastic tetraplegia1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0100021HP:0002510Spastic tetraplegia1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0100021HP:0002510Spastic tetraplegia1PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications.
HP:0100021HP:0002510Spastic tetraplegia1PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0100021HP:0002510Spastic tetraplegia1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0100021HP:0002510Spastic tetraplegia1PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0100021HP:0002510Spastic tetraplegia1PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0100021HP:0002510Spastic tetraplegia1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0100021HP:0002510Spastic tetraplegia1PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0100021HP:0002510Spastic tetraplegia1PPFIBP1 CL E G H84969249OMIM:620024
HP:0100021HP:0002510Spastic tetraplegia1PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0100021HP:0002510Spastic tetraplegia1PRDM13 CL E G H5933613998OMIM:6199092
HP:0100021HP:0002510Spastic tetraplegia1PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0100021HP:0011099Spastic hemiparesis1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0100021HP:0002510Spastic tetraplegia1PSMC1 CL E G H57009547OMIM:6200711
HP:0100021HP:0002510Spastic tetraplegia1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0100021HP:0002510Spastic tetraplegia1RANBP2 CL E G H59039848OMIM:608033Encephalopathy, acute, infection-induced, susceptibility to, 3.57
HP:0100021HP:0002510Spastic tetraplegia1RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0100021HP:0011445Athetoid cerebral palsy1RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040284 - Very rare16
HP:0100021HP:0002510Spastic tetraplegia1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0100021HP:0002510Spastic tetraplegia1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0100021HP:0002510Spastic tetraplegia1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0100021HP:0002510Spastic tetraplegia1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0100021HP:0002510Spastic tetraplegia1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100021HP:0002510Spastic tetraplegia1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0100021HP:0002510Spastic tetraplegia1SCN2A CL E G H632610588OMIM:613721Epileptic encephalopathy, early infantile, 11.427
HP:0100021HP:0002510Spastic tetraplegia1SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0100021HP:0002510Spastic tetraplegia1SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0100021HP:0002510Spastic tetraplegia1SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0100021HP:0002510Spastic tetraplegia1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0100021HP:0002510Spastic tetraplegia1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100021HP:0002510Spastic tetraplegia1SHQ1 CL E G H5516425543OMIM:619922
HP:0100021HP:0002510Spastic tetraplegia1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0100021HP:0002510Spastic tetraplegia1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0100021HP:0002510Spastic tetraplegia1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0100021HP:0002510Spastic tetraplegia1SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040283 - Occasional110
HP:0100021HP:0002510Spastic tetraplegia1SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0100021HP:0002510Spastic tetraplegia1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0100021HP:0002510Spastic tetraplegia1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0100021HP:0002510Spastic tetraplegia1SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0100021HP:0011099Spastic hemiparesis1SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0100021HP:0002510Spastic tetraplegia1SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0100021HP:0002510Spastic tetraplegia1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100021HP:0002510Spastic tetraplegia1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0100021HP:0002510Spastic tetraplegia1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0100021HP:0002510Spastic tetraplegia1SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0100021HP:0011445Athetoid cerebral palsy1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0100021HP:0002510Spastic tetraplegia1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegenerationHP:0040283 - Occasional12
HP:0100021HP:0002510Spastic tetraplegia1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 4.15
HP:0100021HP:0002510Spastic tetraplegia1TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0100021HP:0002510Spastic tetraplegia1TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0100021HP:0002510Spastic tetraplegia1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0100021HP:0002510Spastic tetraplegia1TUBA1A CL E G H784620766OMIM:611603Lissencephaly 3.106
HP:0100021HP:0002510Spastic tetraplegia1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0100021HP:0002510Spastic tetraplegia1TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 4HP:0040283 - Occasional14
HP:0100021HP:0002510Spastic tetraplegia1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0100021HP:0002510Spastic tetraplegia1VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0100021HP:0002510Spastic tetraplegia1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0100021HP:0002510Spastic tetraplegia1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0100021HP:0002510Spastic tetraplegia1WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0100021HP:0002510Spastic tetraplegia1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1HP:0040283 - Occasional14
HP:0100021HP:0002510Spastic tetraplegia1YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS


Genes (168) :ADAR ADD3 ADGRG1 AIP ALS2 ANKLE2 AP4E1 AP4M1 AP4S1 APC2 ARSA ARX ASNS ATP13A2 ATP6V0A1 ATP8A2 AUH AUTS2 BCL11B CA8 CACNA1D CACNA1E CAMK2B CD109 CDC40 CIC CLIC2 CLN8 CNP CNPY3 CNTNAP2 COASY COG2 COL4A2 COLGALT1 CPSF3 CSF1R CTNNA2 CYB5A CYB5R3 DCC DCX DEGS1 DNAL4 DNASE1L3 DPH5 DTYMK DYNC1H1 ELOVL4 EXOC2 FBXW11 FUCA1 GABRA2 GLB1 GLYCTK GNB1 GOT2 GP1BA GP1BB GPR101 GRIA4 GRIN1 GSX2 H4C5 HMGCL HPGD HSD17B10 IBA57 IDH1 IDH2 IDUA IFIH1 ITGA2 ITGA2B ITGB3 KANK1 KARS1 KCNC2 KIF2A KIF5C LIAS LSM11 MCCC2 MCOLN1 MECP2 MINPP1 MOCS1 MOCS2 MRPS22 MTFMT NALCN NAXD NDE1 NDUFAF4 NDUFAF5 NRCAM NSRP1 NTN1 OSTM1 OTUD6B PCBD1 PCDH12 PDHX PET100 PHGDH PI4KA PLA2G6 PNP PPFIBP1 PPIL1 PRDM13 PRDM8 PRNP PROC PSMC1 RAB18 RAD51 RANBP2 RBM10 RNASEH2A RNASEH2B RNASEH2C RNF125 RNU7-1 SAMHD1 SCN2A SCN3A SCN4A SDHAF1 SEC31A SEPSECS SHMT2 SHQ1 SIX6 SLC16A2 SLC19A3 SLC1A4 SLC5A6 SLC6A3 SLCO2A1 SMARCB1 SOX10 SOX2 SPATA5L1 SPR SPTAN1 SPTBN1 SRPX2 STXBP1 SYNJ1 SYT1 TANGO2 TBC1D20 TBCE TMX2 TREX1 TUBA1A TUBB2B TUBB3 TUBG1 UNC80 VLDLR VPS53 WARS2 WDR45B WDR73 WDR81 YIF1B

Diseases (154) :ORPHA:51 OMIM:617008 ORPHA:98889 ORPHA:963 ORPHA:293168 OMIM:607225 OMIM:616681 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:618677 OMIM:250100 OMIM:300004 OMIM:615574 OMIM:617225 OMIM:619971 ORPHA:1766 OMIM:250950 ORPHA:352490 OMIM:615834 OMIM:617237 OMIM:615474 ORPHA:369929 OMIM:618285 OMIM:617799 ORPHA:853 OMIM:619302 OMIM:617600 OMIM:300886 ORPHA:324410 ORPHA:1947 OMIM:619071 OMIM:617929 ORPHA:163681 OMIM:615643 ORPHA:435934 OMIM:617395 OMIM:614483 OMIM:618360 OMIM:619876 OMIM:618476 OMIM:618174 ORPHA:621 ORPHA:238722 ORPHA:2148 OMIM:618404 ORPHA:36412 OMIM:620070 OMIM:619847 OMIM:614563 OMIM:614457 OMIM:619306 OMIM:618914 OMIM:230000 ORPHA:349 OMIM:618557 OMIM:230600 OMIM:220120 OMIM:616973 OMIM:618721 OMIM:617864 ORPHA:208447 OMIM:618646 OMIM:619950 ORPHA:20 ORPHA:2796 OMIM:300438 OMIM:615330 ORPHA:163634 ORPHA:93473 ORPHA:93474 OMIM:612900 OMIM:619147 OMIM:619913 OMIM:615411 OMIM:615282 OMIM:614462 OMIM:210210 OMIM:252650 OMIM:300055 OMIM:619527 OMIM:252150 OMIM:252160 OMIM:611719 OMIM:618248 OMIM:615419 ORPHA:371364 OMIM:618321 OMIM:605013 OMIM:618237 OMIM:618238 OMIM:619833 OMIM:620001 OMIM:259720 ORPHA:505237 OMIM:617452 ORPHA:1578 OMIM:251280 OMIM:245349 OMIM:619055 ORPHA:79351 OMIM:601815 OMIM:256600 ORPHA:760 OMIM:620024 OMIM:619301 OMIM:619909 OMIM:616640 ORPHA:282166 OMIM:612304 OMIM:620071 OMIM:614222 OMIM:608033 ORPHA:88619 ORPHA:2886 OMIM:616260 OMIM:619487 OMIM:613721 OMIM:617938 ORPHA:682 OMIM:619166 OMIM:618651 OMIM:613811 OMIM:619121 OMIM:619922 OMIM:206900 OMIM:300523 ORPHA:59 ORPHA:263410 OMIM:616657 OMIM:618973 ORPHA:238455 ORPHA:99966 OMIM:609136 OMIM:619616 ORPHA:70594 OMIM:613477 OMIM:619475 OMIM:612164 OMIM:617389 ORPHA:522077 OMIM:616878 OMIM:615663 OMIM:617207 OMIM:618730 OMIM:611603 ORPHA:300570 OMIM:615412 OMIM:615851 OMIM:617710 ORPHA:572798 OMIM:617977 OMIM:251300 OMIM:619125
 

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