Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Neurodevelopmental abnormality (HP:0012759)help
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Developmental regression (HP:0002376)help
Term ID: 2376
Name: Developmental regression
Synonym: Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive
Definition: Loss of developmental skills, as manifested by loss of developmental milestones.
Comments:
Reference: HP:0002376
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDevelopmental stagnation (HP:0007281) help
..expandIntellectual disability (HP:0001249) help
..expandNeurodevelopmental delay (HP:0012758) help
..expandSpecific learning disability (HP:0001328) 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:0002376HP:0002376Developmental regression0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0002376HP:0002376Developmental regression0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0002376HP:0002376Developmental regression0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0002376HP:0002376Developmental regression0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0002376HP:0002376Developmental regression0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0002376HP:0002376Developmental regression0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040282 - Frequent22
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6HP:0040283 - Occasional116
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0002376HP:0002376Developmental regression0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional530
HP:0002376HP:0002376Developmental regression0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0002376HP:0002376Developmental regression0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0002376HP:0002376Developmental regression0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0002376HP:0002376Developmental regression0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0002376HP:0002376Developmental regression0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0002376HP:0002376Developmental regression0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.HP:0003593 - Infantile onset60
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0002376HP:0002376Developmental regression0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0002376HP:0002376Developmental regression0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0002376HP:0002376Developmental regression0ARHGEF9 CL E G H2322914561ORPHA:163985Hyperekplexia-epilepsy syndromeHP:0040282 - Frequent45
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0002376HP:0002376Developmental regression0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0002376HP:0002376Developmental regression0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002376HP:0002376Developmental regression0ARX CL E G H17030218060ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent166
HP:0002376HP:0002376Developmental regression0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0002376HP:0002376Developmental regression0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0002376HP:0002376Developmental regression0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002376HP:0002376Developmental regression0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1239
HP:0002376HP:0002376Developmental regression0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0002376HP:0002376Developmental regression0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0002376HP:0002376Developmental regression0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0002376HP:0002376Developmental regression0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0002376HP:0002376Developmental regression0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0002376HP:0002376Developmental regression0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0002376HP:0002376Developmental regression0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002376HP:0002376Developmental regression0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0002376HP:0002376Developmental regression0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0002376HP:0002376Developmental regression0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0002376HP:0002376Developmental regression0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0002376HP:0002376Developmental regression0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0002376HP:0002376Developmental regression0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0002376HP:0002376Developmental regression0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0002376HP:0002376Developmental regression0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0002376HP:0002376Developmental regression0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0002376HP:0002376Developmental regression0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002376HP:0002376Developmental regression0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0002376HP:0002376Developmental regression0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002376HP:0002376Developmental regression0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0002376HP:0002376Developmental regression0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H679211411ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent405
HP:0002376HP:0002376Developmental regression0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0002376HP:0002376Developmental regression0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0002376HP:0002376Developmental regression0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0002376HP:0002376Developmental regression0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002376HP:0002376Developmental regression0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0002376HP:0002376Developmental regression0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0002376HP:0002376Developmental regression0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0002376HP:0002376Developmental regression0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002376HP:0002376Developmental regression0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaHP:0040283 - Occasional38
HP:0002376HP:0002376Developmental regression0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0002376HP:0002376Developmental regression0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0002376HP:0002376Developmental regression0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002376HP:0002376Developmental regression0CNPY3 CL E G H1069511968ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent
HP:0002376HP:0002376Developmental regression0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0002376HP:0002376Developmental regression0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0002376HP:0002376Developmental regression0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0002376HP:0002376Developmental regression0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0002376HP:0002376Developmental regression0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0002376HP:0002376Developmental regression0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002376HP:0002376Developmental regression0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040282 - Frequent88
HP:0002376HP:0002376Developmental regression0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0002376HP:0002376Developmental regression0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0002376HP:0002376Developmental regression0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0002376HP:0002376Developmental regression0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0002376HP:0002376Developmental regression0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0002376HP:0002376Developmental regression0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002376HP:0002376Developmental regression0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0002376HP:0002376Developmental regression0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0002376HP:0002376Developmental regression0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0002376HP:0002376Developmental regression0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent94
HP:0002376HP:0002376Developmental regression0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0002376HP:0002376Developmental regression0DPH5 CL E G H5161124270OMIM:620070
HP:0002376HP:0002376Developmental regression0DTYMK CL E G H18413061OMIM:619847
HP:0002376HP:0002376Developmental regression0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0002376HP:0002376Developmental regression0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0002376HP:0002376Developmental regression0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0002376HP:0002376Developmental regression0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0002376HP:0002376Developmental regression0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0002376HP:0002376Developmental regression0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0002376HP:0002376Developmental regression0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0002376HP:0002376Developmental regression0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0002376HP:0002376Developmental regression0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0002376HP:0002376Developmental regression0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0002376HP:0002376Developmental regression0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0002376HP:0002376Developmental regression0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0002376HP:0002376Developmental regression0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0002376HP:0002376Developmental regression0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0002376HP:0002376Developmental regression0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0002376HP:0002376Developmental regression0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040281 - Very frequent18
HP:0002376HP:0002376Developmental regression0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0002376HP:0002376Developmental regression0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0002376HP:0002376Developmental regression0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0002376HP:0002376Developmental regression0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0002376HP:0002376Developmental regression0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0002376HP:0002376Developmental regression0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0002376HP:0002376Developmental regression0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002376HP:0002376Developmental regression0FBXW7 CL E G H5529416712OMIM:62001222
HP:0002376HP:0002376Developmental regression0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0002376HP:0002376Developmental regression0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0002376HP:0002376Developmental regression0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002376HP:0002376Developmental regression0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0002376HP:0002376Developmental regression0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0002376HP:0002376Developmental regression0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0FOLR1 CL E G H23483791OMIM:613068Neurodegeneration due to cerebral folate transport deficiency.47
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0002376HP:0002376Developmental regression0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040282 - Frequent4
HP:0002376HP:0002376Developmental regression0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0002376HP:0002376Developmental regression0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0002376HP:0002376Developmental regression0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0002376HP:0002376Developmental regression0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040281 - Very frequent134
HP:0002376HP:0002376Developmental regression0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0002376HP:0002376Developmental regression0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0002376HP:0002376Developmental regression0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0002376HP:0002376Developmental regression0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional10
HP:0002376HP:0002376Developmental regression0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040281 - Very frequent139
HP:0002376HP:0002376Developmental regression0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional139
HP:0002376HP:0002376Developmental regression0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0002376HP:0002376Developmental regression0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0002376HP:0002376Developmental regression0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002376HP:0002376Developmental regression0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0002376HP:0002376Developmental regression0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0002376HP:0002376Developmental regression0GFAP CL E G H26704235OMIM:203450Alexander disease.188
HP:0002376HP:0002376Developmental regression0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0002376HP:0002376Developmental regression0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0002376HP:0002376Developmental regression0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040281 - Very frequent120
HP:0002376HP:0002376Developmental regression0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0002376HP:0002376Developmental regression0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040283 - Occasional17
HP:0002376HP:0002376Developmental regression0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0002376HP:0002376Developmental regression0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0002376HP:0002376Developmental regression0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002376HP:0002376Developmental regression0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002376HP:0002376Developmental regression0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002376HP:0002376Developmental regression0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040284 - Very rare108
HP:0002376HP:0002376Developmental regression0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002376HP:0002376Developmental regression0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040282 - Frequent434
HP:0002376HP:0002376Developmental regression0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0002376HP:0002376Developmental regression0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040282 - Frequent434
HP:0002376HP:0002376Developmental regression0GRIN2B CL E G H29044586ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent274
HP:0002376HP:0002376Developmental regression0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0002376HP:0002376Developmental regression0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002376HP:0002376Developmental regression0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0GUF1 CL E G H6055825799ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent2
HP:0002376HP:0002376Developmental regression0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002376HP:0002376Developmental regression0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0002376HP:0002376Developmental regression0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional54
HP:0002376HP:0002376Developmental regression0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0002376HP:0002376Developmental regression0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002376HP:0002376Developmental regression0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0002376HP:0002376Developmental regression0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002376HP:0002376Developmental regression0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0002376HP:0002376Developmental regression0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0002376HP:0002376Developmental regression0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0002376HP:0002376Developmental regression0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 5439
HP:0002376HP:0002376Developmental regression0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002376HP:0002376Developmental regression0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0002376HP:0002376Developmental regression0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0002376HP:0002376Developmental regression0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0002376HP:0002376Developmental regression0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0002376HP:0002376Developmental regression0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0002376HP:0002376Developmental regression0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040284 - Very rare86
HP:0002376HP:0002376Developmental regression0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0002376HP:0002376Developmental regression0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002376HP:0002376Developmental regression0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7HP:0040283 - Occasional28
HP:0002376HP:0002376Developmental regression0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0002376HP:0002376Developmental regression0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0002376HP:0002376Developmental regression0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002376HP:0002376Developmental regression0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0002376HP:0002376Developmental regression0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0002376HP:0002376Developmental regression0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0002376HP:0002376Developmental regression0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0002376HP:0002376Developmental regression0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5.1
HP:0002376HP:0002376Developmental regression0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002376HP:0002376Developmental regression0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002376HP:0002376Developmental regression0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0002376HP:0002376Developmental regression0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0002376HP:0002376Developmental regression0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0002376HP:0002376Developmental regression0KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 57.1
HP:0002376HP:0002376Developmental regression0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0002376HP:0002376Developmental regression0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040282 - Frequent106
HP:0002376HP:0002376Developmental regression0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0002376HP:0002376Developmental regression0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0002376HP:0002376Developmental regression0LETM1 CL E G H39546556OMIM:6200892
HP:0002376HP:0002376Developmental regression0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency21
HP:0002376HP:0002376Developmental regression0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0002376HP:0002376Developmental regression0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0002376HP:0002376Developmental regression0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0002376HP:0002376Developmental regression0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002376HP:0002376Developmental regression0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0002376HP:0002376Developmental regression0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 217
HP:0002376HP:0002376Developmental regression0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0002376HP:0002376Developmental regression0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0002376HP:0002376Developmental regression0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0002376HP:0002376Developmental regression0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040284 - Very rare101
HP:0002376HP:0002376Developmental regression0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0002376HP:0002376Developmental regression0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0002376HP:0002376Developmental regression0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0002376HP:0002376Developmental regression0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0002376HP:0002376Developmental regression0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040281 - Very frequent47
HP:0002376HP:0002376Developmental regression0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0002376HP:0002376Developmental regression0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0002376HP:0002376Developmental regression0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0002376HP:0002376Developmental regression0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0002376HP:0002376Developmental regression0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0002376HP:0002376Developmental regression0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0002376HP:0002376Developmental regression0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0002376HP:0002376Developmental regression0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0002376HP:0002376Developmental regression0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0002376HP:0002376Developmental regression0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17HP:0040284 - Very rare39
HP:0002376HP:0002376Developmental regression0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002376HP:0002376Developmental regression0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0002376HP:0002376Developmental regression0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0002376HP:0002376Developmental regression0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0002376HP:0002376Developmental regression0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0002376HP:0002376Developmental regression0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0002376HP:0002376Developmental regression0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0002376HP:0002376Developmental regression0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0002376HP:0002376Developmental regression0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0002376HP:0002376Developmental regression0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0002376HP:0002376Developmental regression0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002376HP:0002376Developmental regression0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0002376HP:0002376Developmental regression0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002376HP:0002376Developmental regression0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0002376HP:0002376Developmental regression0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0002376HP:0002376Developmental regression0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002376HP:0002376Developmental regression0NTRK2 CL E G H49158032ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent8
HP:0002376HP:0002376Developmental regression0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0002376HP:0002376Developmental regression0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0002376HP:0002376Developmental regression0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0002376HP:0002376Developmental regression0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0002376HP:0002376Developmental regression0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0002376HP:0002376Developmental regression0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0002376HP:0002376Developmental regression0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0002376HP:0002376Developmental regression0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040281 - Very frequent225
HP:0002376HP:0002376Developmental regression0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9.225
HP:0002376HP:0002376Developmental regression0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002376HP:0002376Developmental regression0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002376HP:0002376Developmental regression0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0002376HP:0002376Developmental regression0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002376HP:0002376Developmental regression0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0002376HP:0002376Developmental regression0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0002376HP:0002376Developmental regression0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0002376HP:0002376Developmental regression0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0002376HP:0002376Developmental regression0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0002376HP:0002376Developmental regression0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0002376HP:0002376Developmental regression0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0002376HP:0002376Developmental regression0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0002376HP:0002376Developmental regression0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0002376HP:0002376Developmental regression0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0002376HP:0002376Developmental regression0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0002376HP:0002376Developmental regression0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0002376HP:0002376Developmental regression0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0002376HP:0002376Developmental regression0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0002376HP:0002376Developmental regression0PHACTR1 CL E G H22169220990ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent1
HP:0002376HP:0002376Developmental regression0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0002376HP:0002376Developmental regression0PIGA CL E G H52778957ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent46
HP:0002376HP:0002376Developmental regression0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002376HP:0002376Developmental regression0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002376HP:0002376Developmental regression0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0002376HP:0002376Developmental regression0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0002376HP:0002376Developmental regression0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0002376HP:0002376Developmental regression0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040281 - Very frequent133
HP:0002376HP:0002376Developmental regression0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0002376HP:0002376Developmental regression0PLCB1 CL E G H2323615917OMIM:613722Epileptic encephalopathy, early infantile, 12119
HP:0002376HP:0002376Developmental regression0PLCB1 CL E G H2323615917ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent119
HP:0002376HP:0002376Developmental regression0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0002376HP:0002376Developmental regression0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0002376HP:0002376Developmental regression0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0002376HP:0002376Developmental regression0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0002376HP:0002376Developmental regression0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002376HP:0002376Developmental regression0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisHP:0040283 - Occasional10
HP:0002376HP:0002376Developmental regression0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0002376HP:0002376Developmental regression0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0002376HP:0002376Developmental regression0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0002376HP:0002376Developmental regression0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002376HP:0002376Developmental regression0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0002376HP:0002376Developmental regression0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002376HP:0002376Developmental regression0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002376HP:0002376Developmental regression0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0002376HP:0002376Developmental regression0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0002376HP:0002376Developmental regression0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0002376HP:0002376Developmental regression0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0002376HP:0002376Developmental regression0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002376HP:0002376Developmental regression0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0002376HP:0002376Developmental regression0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0002376HP:0002376Developmental regression0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002376HP:0002376Developmental regression0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040282 - Frequent11
HP:0002376HP:0002376Developmental regression0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0002376HP:0002376Developmental regression0REEP1 CL E G H6505525786OMIM:62001187
HP:0002376HP:0002376Developmental regression0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0002376HP:0002376Developmental regression0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002376HP:0002376Developmental regression0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002376HP:0002376Developmental regression0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002376HP:0002376Developmental regression0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0ROGDI CL E G H7964129478ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent57
HP:0002376HP:0002376Developmental regression0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndromeHP:0040283 - Occasional57
HP:0002376HP:0002376Developmental regression0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002376HP:0002376Developmental regression0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0002376HP:0002376Developmental regression0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002376HP:0002376Developmental regression0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040281 - Very frequent1053
HP:0002376HP:0002376Developmental regression0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0002376HP:0002376Developmental regression0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional1053
HP:0002376HP:0002376Developmental regression0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040281 - Very frequent126
HP:0002376HP:0002376Developmental regression0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002376HP:0002376Developmental regression0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional126
HP:0002376HP:0002376Developmental regression0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040281 - Very frequent427
HP:0002376HP:0002376Developmental regression0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002376HP:0002376Developmental regression0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional427
HP:0002376HP:0002376Developmental regression0SCN2A CL E G H632610588ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent427
HP:0002376HP:0002376Developmental regression0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0002376HP:0002376Developmental regression0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13.357
HP:0002376HP:0002376Developmental regression0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0002376HP:0002376Developmental regression0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040281 - Very frequent318
HP:0002376HP:0002376Developmental regression0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional318
HP:0002376HP:0002376Developmental regression0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0002376HP:0002376Developmental regression0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0002376HP:0002376Developmental regression0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0002376HP:0002376Developmental regression0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0002376HP:0002376Developmental regression0SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0002376HP:0002376Developmental regression0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0002376HP:0002376Developmental regression0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0002376HP:0002376Developmental regression0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0002376HP:0002376Developmental regression0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0002376HP:0002376Developmental regression0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002376HP:0002376Developmental regression0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0002376HP:0002376Developmental regression0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002376HP:0002376Developmental regression0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0002376HP:0002376Developmental regression0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0002376HP:0002376Developmental regression0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002376HP:0002376Developmental regression0SIK1 CL E G H15009411142ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent11
HP:0002376HP:0002376Developmental regression0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0002376HP:0002376Developmental regression0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 34.8
HP:0002376HP:0002376Developmental regression0SLC13A5 CL E G H28411123089ORPHA:1946Amelocerebrohypohidrotic syndromeHP:0040281 - Very frequent73
HP:0002376HP:0002376Developmental regression0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0002376HP:0002376Developmental regression0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002376HP:0002376Developmental regression0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41HP:0040283 - Occasional3
HP:0002376HP:0002376Developmental regression0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0002376HP:0002376Developmental regression0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002376HP:0002376Developmental regression0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0002376HP:0002376Developmental regression0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0002376HP:0002376Developmental regression0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0002376HP:0002376Developmental regression0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002376HP:0002376Developmental regression0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0002376HP:0002376Developmental regression0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0002376HP:0002376Developmental regression0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040284 - Very rare74
HP:0002376HP:0002376Developmental regression0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0002376HP:0002376Developmental regression0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0002376HP:0002376Developmental regression0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002376HP:0002376Developmental regression0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002376HP:0002376Developmental regression0SPTAN1 CL E G H670911273ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent416
HP:0002376HP:0002376Developmental regression0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002376HP:0002376Developmental regression0ST3GAL3 CL E G H648710866ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent41
HP:0002376HP:0002376Developmental regression0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0002376HP:0002376Developmental regression0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0002376HP:0002376Developmental regression0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional9
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0002376HP:0002376Developmental regression0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0002376HP:0002376Developmental regression0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0002376HP:0002376Developmental regression0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5.108
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0002376HP:0002376Developmental regression0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0002376HP:0002376Developmental regression0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0002376HP:0002376Developmental regression0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002376HP:0002376Developmental regression0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040282 - Frequent271
HP:0002376HP:0002376Developmental regression0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0002376HP:0002376Developmental regression0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0002376HP:0002376Developmental regression0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002376HP:0002376Developmental regression0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0002376HP:0002376Developmental regression0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0002376HP:0002376Developmental regression0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0002376HP:0002376Developmental regression0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0002376HP:0002376Developmental regression0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002376HP:0002376Developmental regression0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0002376HP:0002376Developmental regression0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0002376HP:0002376Developmental regression0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0002376HP:0002376Developmental regression0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0TMLHE CL E G H5521718308OMIM:300872Autism, susceptibility to, X-linked 6.10
HP:0002376HP:0002376Developmental regression0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0002376HP:0002376Developmental regression0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002376HP:0002376Developmental regression0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0002376HP:0002376Developmental regression0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0002376HP:0002376Developmental regression0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040283 - Occasional27
HP:0002376HP:0002376Developmental regression0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040283 - Occasional2
HP:0002376HP:0002376Developmental regression0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0002376HP:0002376Developmental regression0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0002376HP:0002376Developmental regression0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002376HP:0002376Developmental regression0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent31
HP:0002376HP:0002376Developmental regression0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002376HP:0002376Developmental regression0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0002376HP:0002376Developmental regression0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0002376HP:0002376Developmental regression0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0002376HP:0002376Developmental regression0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiencyHP:0040283 - Occasional62
HP:0002376HP:0002376Developmental regression0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0002376HP:0002376Developmental regression0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent22
HP:0002376HP:0002376Developmental regression0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0002376HP:0002376Developmental regression0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040281 - Very frequent1
HP:0002376HP:0002376Developmental regression0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002376HP:0002376Developmental regression0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002376HP:0002376Developmental regression0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0002376HP:0002376Developmental regression0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002376HP:0002376Developmental regression0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002376HP:0002376Developmental regression0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002376HP:0002376Developmental regression0WDR45 CL E G H1115228912ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent51
HP:0002376HP:0002376Developmental regression0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0002376HP:0002376Developmental regression0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0002376HP:0002376Developmental regression0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0002376HP:0002376Developmental regression0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0002376HP:0002376Developmental regression0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0002376HP:0002376Developmental regression0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002376HP:0002376Developmental regression0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0002376HP:0002376Developmental regression0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040281 - Very frequent17
HP:0002376HP:0002376Developmental regression0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002376HP:0033044Motor regression1ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0002376HP:0033044Motor regression1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0002376HP:0033044Motor regression1DPH5 CL E G H5161124270OMIM:620070
HP:0002376HP:0033044Motor regression1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0002376HP:0034332Cognitive regression1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0002376HP:0033044Motor regression1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0002376HP:0033044Motor regression1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0002376HP:0033044Motor regression1NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0002376HP:0033044Motor regression1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002376HP:0033044Motor regression1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002376HP:0033044Motor regression1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002376HP:0033044Motor regression1POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002376HP:0033044Motor regression1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002376HP:0033044Motor regression1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


Genes (398) :AAAS AARS1 ACER3 ACOX1 ACTL6B ADA2 ADAR ADGRV1 ADH5 ADNP ADPRS AGA AGTPBP1 AHCY AIFM1 AMN AP3B2 ARHGEF9 ARSA ARV1 ARX ASAH1 ASPA ATP11A ATP1A2 ATP1A3 ATP5MK ATP6 ATP6V1A ATP7A BAZ1B BCL7B BICRA BMPR1A BOLA3 BSCL2 BUD23 C4A CACNA1A CACNA1B CACNA1E CACNA2D1 CAD CAMK2B CARS2 CASK CCR1 CD40LG CDK19 CDKL5 CELF2 CHD2 CHMP1A CIC CISD2 CLIP2 CLN5 CLN8 CLPB CLTC CNKSR2 CNP CNPY3 COA8 COASY COG8 COQ2 COQ8A COX4I1 CTNNB1 CUBN CYFIP2 DALRD3 DDB2 DEAF1 DHDDS DMXL2 DNAJC19 DNAJC30 DNM1 DNM1L DNMT3A DPH5 DTYMK EARS2 EEF1A2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF3F EIF4H ELN EPCAM EPRS1 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERLIN2 ETHE1 FAN1 FAR1 FARS2 FAS FBXO28 FBXW7 FDXR FGF12 FGF13 FITM2 FKBP6 FOLR1 FOXG1 FRRS1L FUCA1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRD GABRG2 GALC GAMT GCDH GFAP GFM2 GLA GLB1 GLRX5 GM2A GMPPA GNAO1 GNB1 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HACE1 HCN1 HEPHL1 HEXB HIBCH HLA-B HNRNPH2 HNRNPU HPDL HSD17B10 HSD17B4 HTT IBA57 IDS IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IPO8 IQSEC2 IRF2BPL IRF4 ISCA1 KARS1 KCNA1 KCNA2 KCNB1 KCNT1 KCNT2 KCTD7 KLRC4 KRAS L2HGDH LETM1 LIMK1 LIPT1 LRPPRC LSM11 LYRM7 MBTPS2 MECP2 MED27 MEFV METTL27 MFF MLH1 MLH3 MLXIPL MMACHC MRPS34 MSH2 MSH6 MTRFR NACC1 NAGA NARS2 NAXD NAXE NBEA NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDP NDUFA6 NDUFAF3 NDUFAF6 NDUFB8 NDUFC2 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFV1 NDUFV2 NECAP1 NEU1 NEUROD2 NFU1 NGLY1 NRXN1 NTNG1 NTNG2 NTRK2 NUP214 NUP62 NUS1 PAFAH1B1 PARS2 PCDH19 PCYT2 PDE2A PDSS2 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHACTR1 PHYH PIGA PIGP PIGQ PIGT PIGY PIK3CA PLA2G6 PLCB1 PLP1 PMPCB PMS1 PMS2 PNKP POC1A POLG POLR3A POLR3B POLR3GL POLR3K PPP3CA PSAP PTCD3 PYCR2 RANBP2 REEP1 RFC2 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROGDI RPS20 SAMHD1 SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCO2 SDHA SDHAF1 SDHB SDHD SELENOI SEMA4A SEMA6B SERAC1 SGPL1 SIK1 SIN3A SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A22 SLC25A42 SLC29A3 SLC30A9 SLC38A3 SLC39A14 SLC9A6 SMARCAL1 SMC1A SMPD1 SON SPTAN1 SPTBN1 ST3GAL3 ST3GAL5 STAT4 STX1A STX1B STXBP1 SUMF1 SURF1 SYNGAP1 SYNJ1 SZT2 TANC2 TANGO2 TBC1D24 TBC1D2B TBCD TBCE TBCK TBL2 TCIRG1 TFE3 TGFBR2 TK2 TLR4 TMEM270 TMLHE TNFRSF11A TPK1 TPP1 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2L TRAPPC6B TREM2 TREX1 TRIM8 TRNK TRNL1 TRNN TRNS1 TRNV TRNW TTPA TUFM TYROBP UBA5 UBAC2 UBTF UGP2 VAC14 VPS37D WARS2 WASF1 WDR45 WFS1 WLS WWOX XPA XPC YWHAG ZBTB18 ZBTB20 ZNF699

Diseases (283) :ORPHA:869 ORPHA:442835 OMIM:617762 ORPHA:2971 OMIM:264470 ORPHA:820 ORPHA:51 OMIM:615010 ORPHA:225154 ORPHA:36387 OMIM:619151 ORPHA:404448 OMIM:618170 OMIM:208400 OMIM:618276 ORPHA:88618 OMIM:300816 ORPHA:238329 OMIM:300232 ORPHA:35858 ORPHA:163985 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:1934 ORPHA:3451 ORPHA:333 OMIM:271900 OMIM:619851 OMIM:104290 OMIM:618683 ORPHA:255210 ORPHA:565 OMIM:309400 ORPHA:904 OMIM:619325 ORPHA:440437 OMIM:614299 OMIM:615924 ORPHA:117 OMIM:618497 OMIM:618285 OMIM:616457 OMIM:617799 ORPHA:477774 OMIM:308230 ORPHA:3095 OMIM:300672 OMIM:615369 OMIM:614961 OMIM:617600 ORPHA:3463 OMIM:256731 OMIM:600143 ORPHA:1947 ORPHA:445038 OMIM:616271 OMIM:619071 OMIM:619061 ORPHA:436271 OMIM:615643 ORPHA:95428 ORPHA:255249 ORPHA:139485 OMIM:619060 ORPHA:404473 ORPHA:910 ORPHA:468620 ORPHA:66634 OMIM:616346 ORPHA:330050 ORPHA:404443 OMIM:620070 OMIM:619847 OMIM:614924 OMIM:603896 OMIM:618295 ORPHA:144 OMIM:617951 ORPHA:280384 OMIM:602473 ORPHA:51188 OMIM:616154 ORPHA:466722 OMIM:619777 OMIM:620012 ORPHA:543470 OMIM:617166 OMIM:301058 OMIM:618635 OMIM:613068 ORPHA:261144 OMIM:613454 ORPHA:725 OMIM:616981 OMIM:230000 OMIM:617903 ORPHA:33069 OMIM:617153 OMIM:245200 ORPHA:206443 OMIM:612736 ORPHA:25 OMIM:203450 OMIM:618397 ORPHA:324 ORPHA:79255 OMIM:230600 ORPHA:401866 ORPHA:309246 ORPHA:488613 OMIM:616973 ORPHA:208447 OMIM:245570 ORPHA:98818 OMIM:619720 OMIM:616756 OMIM:261990 OMIM:268800 ORPHA:309155 OMIM:250620 OMIM:300986 OMIM:617391 OMIM:619026 ORPHA:391428 OMIM:300438 OMIM:261515 OMIM:617435 OMIM:615330 ORPHA:217093 ORPHA:217085 OMIM:615846 OMIM:619472 OMIM:309530 ORPHA:397933 OMIM:618088 ORPHA:3452 OMIM:617613 OMIM:619147 OMIM:614959 OMIM:617771 OMIM:611726 ORPHA:263516 OMIM:236792 OMIM:620089 OMIM:616299 ORPHA:70472 OMIM:615838 ORPHA:2273 OMIM:300260 OMIM:312750 ORPHA:778 OMIM:619286 OMIM:617086 ORPHA:485421 ORPHA:79282 OMIM:617664 ORPHA:254930 OMIM:613559 ORPHA:500545 ORPHA:79279 OMIM:609241 OMIM:616239 OMIM:618321 OMIM:617186 OMIM:619157 ORPHA:649 OMIM:618253 ORPHA:70474 OMIM:618239 OMIM:619170 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618224 OMIM:618225 OMIM:618229 ORPHA:93400 OMIM:605711 ORPHA:404454 OMIM:615273 OMIM:614325 OMIM:618718 OMIM:618426 OMIM:271930 ORPHA:95232 OMIM:300088 OMIM:618770 OMIM:619150 OMIM:619063 ORPHA:44 ORPHA:773 OMIM:615398 OMIM:616809 ORPHA:35069 OMIM:256600 OMIM:613722 ORPHA:280229 OMIM:617954 OMIM:614813 ORPHA:726 OMIM:203700 OMIM:607694 ORPHA:447896 OMIM:619234 OMIM:619310 OMIM:617711 OMIM:610539 OMIM:249900 OMIM:619057 ORPHA:481152 ORPHA:88619 OMIM:620011 OMIM:618004 ORPHA:1946 OMIM:226750 OMIM:619228 OMIM:619229 OMIM:607208 OMIM:614558 ORPHA:3208 OMIM:252011 OMIM:619166 OMIM:619224 OMIM:619167 OMIM:618768 OMIM:618876 OMIM:614739 OMIM:617575 OMIM:613406 OMIM:616645 OMIM:607483 OMIM:617105 OMIM:618416 ORPHA:1782 OMIM:617595 ORPHA:521406 OMIM:617013 ORPHA:85278 ORPHA:1830 OMIM:257200 ORPHA:500150 OMIM:617140 OMIM:619475 OMIM:609056 OMIM:612164 ORPHA:585 OMIM:220110 OMIM:612621 ORPHA:544254 OMIM:618906 ORPHA:480864 OMIM:615338 ORPHA:352596 OMIM:619323 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:616900 ORPHA:488632 OMIM:301066 ORPHA:254875 OMIM:300872 OMIM:614458 OMIM:204500 OMIM:618201 ORPHA:500144 OMIM:617669 OMIM:618331 OMIM:617862 ORPHA:2770 ORPHA:96 OMIM:610678 ORPHA:500180 OMIM:617672 OMIM:618744 OMIM:617054 OMIM:619738 OMIM:618707 OMIM:619648 OMIM:612337 ORPHA:3042 OMIM:619488
 

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