Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of forebrain morphology (HP:0100547)help
Parent Node:
expand
Abnormal cerebral morphology (HP:0002060)help
..Starting node
..expand
Leukoencephalopathy (HP:0002352)help
Term ID: 2352
Name: Leukoencephalopathy
Synonym:
Definition: This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Comments:
Reference: HP:0002352
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the periventricular white matter (HP:0002518) help
................... HP:0006970 Periventricular leukomalacia
................... HP:0007109 Periventricular cysts
................... HP:0030081 Punctate periventricular T2 hyperintense foci
........expandPosterior leukoencephalopathy (HP:0006859) help
........expandDiffuse spongiform leukoencephalopathy (HP:0006943) help
........expandProgressive leukoencephalopathy (HP:0006980) help
........expandDiffuse leukoencephalopathy (HP:0006994) help

 Sister Nodes: 
..expandAbnormal cerebral cortex morphology (HP:0002538) help
..expandAbnormality of the cerebral subcortex (HP:0010993) help
..expandAbnormality of the septum pellucidum (HP:0007375) help
..expandAplasia/Hypoplasia of the cerebrum (HP:0007364) help
..expandAtrophy/Degeneration affecting the cerebrum (HP:0007369) help
..expandCerebral calcification (HP:0002514) help
..expandCerebral edema (HP:0002181) help
..expandCerebral granulomatosis (HP:0100313) help
..expandCerebral inclusion bodies (HP:0100314) help
..expandDiffuse cerebral sclerosis (HP:0006918) help
..expandEncephalomalacia (HP:0040197) help
..expandGranulovacuolar degeneration (HP:0002528) help
..expandMegalencephaly (HP:0001355) help
..expandPorencephalic cyst (HP:0002132) help
..expandSchizencephaly (HP:0010636) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002352HP:0002352Leukoencephalopathy0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0002352Leukoencephalopathy0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0002352Leukoencephalopathy0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0002352Leukoencephalopathy0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0002352Leukoencephalopathy0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0002352Leukoencephalopathy0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0002352Leukoencephalopathy0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0002352Leukoencephalopathy0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0002352Leukoencephalopathy0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0002352Leukoencephalopathy0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0002352Leukoencephalopathy0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0002352Leukoencephalopathy0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0002352Leukoencephalopathy0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0002352Leukoencephalopathy0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0002352Leukoencephalopathy0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0002352Leukoencephalopathy0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0002352Leukoencephalopathy0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0002352Leukoencephalopathy0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0002352Leukoencephalopathy0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0002352Leukoencephalopathy0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0002352Leukoencephalopathy0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0002352Leukoencephalopathy0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0002352Leukoencephalopathy0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0002352Leukoencephalopathy0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0002352Leukoencephalopathy0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0002352Leukoencephalopathy0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0002352Leukoencephalopathy0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0002352Leukoencephalopathy0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0002352Leukoencephalopathy0MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0002352Leukoencephalopathy0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0002352Leukoencephalopathy0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0002352Leukoencephalopathy0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0002352Leukoencephalopathy0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0002352Leukoencephalopathy0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0002352Leukoencephalopathy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0002352Leukoencephalopathy0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0002352Leukoencephalopathy0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0002352Leukoencephalopathy0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0002352Leukoencephalopathy0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0002352Leukoencephalopathy0PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0002352Leukoencephalopathy0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0002352Leukoencephalopathy0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0002352Leukoencephalopathy0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0002352Leukoencephalopathy0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0002352Leukoencephalopathy0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0002352Leukoencephalopathy0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0002352Leukoencephalopathy0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0002352Leukoencephalopathy0SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0002352Leukoencephalopathy0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0002352Leukoencephalopathy0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0002352Leukoencephalopathy0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0002352Leukoencephalopathy0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0002352Leukoencephalopathy0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0002352Leukoencephalopathy0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0002352Leukoencephalopathy0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0002352Leukoencephalopathy0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0006994Diffuse leukoencephalopathy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0006980Progressive leukoencephalopathy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0002518Abnormal periventricular white matter morphology1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0006859Posterior leukoencephalopathy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0006994Diffuse leukoencephalopathy1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0006980Progressive leukoencephalopathy1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0006859Posterior leukoencephalopathy1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0006980Progressive leukoencephalopathy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0006859Posterior leukoencephalopathy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0002518Abnormal periventricular white matter morphology1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0006994Diffuse leukoencephalopathy1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0006980Progressive leukoencephalopathy1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0006859Posterior leukoencephalopathy1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0006994Diffuse leukoencephalopathy1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0006994Diffuse leukoencephalopathy1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0006980Progressive leukoencephalopathy1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0006859Posterior leukoencephalopathy1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0006994Diffuse leukoencephalopathy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0006980Progressive leukoencephalopathy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0006859Posterior leukoencephalopathy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0006994Diffuse leukoencephalopathy1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0006980Progressive leukoencephalopathy1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0006859Posterior leukoencephalopathy1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0006994Diffuse leukoencephalopathy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0006980Progressive leukoencephalopathy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0006859Posterior leukoencephalopathy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0006994Diffuse leukoencephalopathy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0006980Progressive leukoencephalopathy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0006859Posterior leukoencephalopathy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0006994Diffuse leukoencephalopathy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0006980Progressive leukoencephalopathy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0006859Posterior leukoencephalopathy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0006994Diffuse leukoencephalopathy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0006980Progressive leukoencephalopathy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0006859Posterior leukoencephalopathy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0006994Diffuse leukoencephalopathy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0006980Progressive leukoencephalopathy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0006859Posterior leukoencephalopathy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0006994Diffuse leukoencephalopathy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0006980Progressive leukoencephalopathy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0002518Abnormal periventricular white matter morphology1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0006859Posterior leukoencephalopathy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0006994Diffuse leukoencephalopathy1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0006980Progressive leukoencephalopathy1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0006859Posterior leukoencephalopathy1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0006994Diffuse leukoencephalopathy1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0006980Progressive leukoencephalopathy1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0006859Posterior leukoencephalopathy1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0006980Progressive leukoencephalopathy1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0006859Posterior leukoencephalopathy1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0006994Diffuse leukoencephalopathy1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0006994Diffuse leukoencephalopathy1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0006980Progressive leukoencephalopathy1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0006859Posterior leukoencephalopathy1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0006980Progressive leukoencephalopathy1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0006859Posterior leukoencephalopathy1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0006994Diffuse leukoencephalopathy1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0006994Diffuse leukoencephalopathy1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0006980Progressive leukoencephalopathy1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0006859Posterior leukoencephalopathy1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0006994Diffuse leukoencephalopathy1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0006980Progressive leukoencephalopathy1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0006859Posterior leukoencephalopathy1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0006994Diffuse leukoencephalopathy1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0006980Progressive leukoencephalopathy1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0006859Posterior leukoencephalopathy1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0006994Diffuse leukoencephalopathy1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0006980Progressive leukoencephalopathy1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0006859Posterior leukoencephalopathy1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0006994Diffuse leukoencephalopathy1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0006980Progressive leukoencephalopathy1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0006859Posterior leukoencephalopathy1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0006994Diffuse leukoencephalopathy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0006980Progressive leukoencephalopathy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0002518Abnormal periventricular white matter morphology1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0006859Posterior leukoencephalopathy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0006994Diffuse leukoencephalopathy1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0006980Progressive leukoencephalopathy1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0006859Posterior leukoencephalopathy1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0006994Diffuse leukoencephalopathy1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0006980Progressive leukoencephalopathy1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0006859Posterior leukoencephalopathy1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0002518Abnormal periventricular white matter morphology1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0006994Diffuse leukoencephalopathy1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0006980Progressive leukoencephalopathy1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0006859Posterior leukoencephalopathy1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0002518Abnormal periventricular white matter morphology1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0006980Progressive leukoencephalopathy1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0006859Posterior leukoencephalopathy1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0006994Diffuse leukoencephalopathy1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0006980Progressive leukoencephalopathy1MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0006859Posterior leukoencephalopathy1MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0006994Diffuse leukoencephalopathy1MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0006994Diffuse leukoencephalopathy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0006980Progressive leukoencephalopathy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0006859Posterior leukoencephalopathy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0006994Diffuse leukoencephalopathy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0006980Progressive leukoencephalopathy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0006859Posterior leukoencephalopathy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0006994Diffuse leukoencephalopathy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0006980Progressive leukoencephalopathy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0006859Posterior leukoencephalopathy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0006980Progressive leukoencephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0006859Posterior leukoencephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0006994Diffuse leukoencephalopathy1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0006980Progressive leukoencephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0006859Posterior leukoencephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0006994Diffuse leukoencephalopathy1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0006980Progressive leukoencephalopathy1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0006859Posterior leukoencephalopathy1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0006994Diffuse leukoencephalopathy1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0006994Diffuse leukoencephalopathy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0006980Progressive leukoencephalopathy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0006859Posterior leukoencephalopathy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0006980Progressive leukoencephalopathy1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0006859Posterior leukoencephalopathy1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0006994Diffuse leukoencephalopathy1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0006994Diffuse leukoencephalopathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0006980Progressive leukoencephalopathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0006859Posterior leukoencephalopathy1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0006980Progressive leukoencephalopathy1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0006859Posterior leukoencephalopathy1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0006994Diffuse leukoencephalopathy1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0006994Diffuse leukoencephalopathy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0006980Progressive leukoencephalopathy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0006859Posterior leukoencephalopathy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0006980Progressive leukoencephalopathy1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0006859Posterior leukoencephalopathy1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0006994Diffuse leukoencephalopathy1PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0006980Progressive leukoencephalopathy1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0006859Posterior leukoencephalopathy1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0006994Diffuse leukoencephalopathy1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0006994Diffuse leukoencephalopathy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0006980Progressive leukoencephalopathy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0002518Abnormal periventricular white matter morphology1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0006859Posterior leukoencephalopathy1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0006980Progressive leukoencephalopathy1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0006859Posterior leukoencephalopathy1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0002518Abnormal periventricular white matter morphology1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0006994Diffuse leukoencephalopathy1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0006994Diffuse leukoencephalopathy1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0006980Progressive leukoencephalopathy1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0006859Posterior leukoencephalopathy1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0006980Progressive leukoencephalopathy1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0006859Posterior leukoencephalopathy1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0006994Diffuse leukoencephalopathy1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0006994Diffuse leukoencephalopathy1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0006980Progressive leukoencephalopathy1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0006859Posterior leukoencephalopathy1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0006994Diffuse leukoencephalopathy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0006980Progressive leukoencephalopathy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0006859Posterior leukoencephalopathy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0006980Progressive leukoencephalopathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0006859Posterior leukoencephalopathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0006994Diffuse leukoencephalopathy1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0006980Progressive leukoencephalopathy1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0006859Posterior leukoencephalopathy1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0006994Diffuse leukoencephalopathy1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0006994Diffuse leukoencephalopathy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0006980Progressive leukoencephalopathy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0006859Posterior leukoencephalopathy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0006980Progressive leukoencephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0006859Posterior leukoencephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0006994Diffuse leukoencephalopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0006994Diffuse leukoencephalopathy1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0006980Progressive leukoencephalopathy1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0006859Posterior leukoencephalopathy1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0006994Diffuse leukoencephalopathy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0006980Progressive leukoencephalopathy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0006859Posterior leukoencephalopathy1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0006980Progressive leukoencephalopathy1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0006859Posterior leukoencephalopathy1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0006994Diffuse leukoencephalopathy1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0006994Diffuse leukoencephalopathy1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0006980Progressive leukoencephalopathy1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0006859Posterior leukoencephalopathy1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0006980Progressive leukoencephalopathy1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0006859Posterior leukoencephalopathy1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0002518Abnormal periventricular white matter morphology1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0006994Diffuse leukoencephalopathy1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0030891Periventricular white matter hyperintensities2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0006970Periventricular leukomalacia2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0007109Periventricular cysts2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0030891Periventricular white matter hyperintensities2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0006970Periventricular leukomalacia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0007109Periventricular cysts2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0007109Periventricular cysts2B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0030891Periventricular white matter hyperintensities2B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0006970Periventricular leukomalacia2B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0007109Periventricular cysts2CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0030891Periventricular white matter hyperintensities2CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0006970Periventricular leukomalacia2CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0030891Periventricular white matter hyperintensities2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0006970Periventricular leukomalacia2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0007109Periventricular cysts2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0030891Periventricular white matter hyperintensities2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0006970Periventricular leukomalacia2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0007109Periventricular cysts2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0030891Periventricular white matter hyperintensities2COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0006970Periventricular leukomalacia2COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0007109Periventricular cysts2COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0030891Periventricular white matter hyperintensities2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0006970Periventricular leukomalacia2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0007109Periventricular cysts2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0030891Periventricular white matter hyperintensities2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0006970Periventricular leukomalacia2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0007109Periventricular cysts2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0030891Periventricular white matter hyperintensities2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0006970Periventricular leukomalacia2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0007109Periventricular cysts2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0030891Periventricular white matter hyperintensities2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0006970Periventricular leukomalacia2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0007109Periventricular cysts2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0030891Periventricular white matter hyperintensities2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0006970Periventricular leukomalacia2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0007109Periventricular cysts2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0030891Periventricular white matter hyperintensities2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0006970Periventricular leukomalacia2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0007109Periventricular cysts2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0030891Periventricular white matter hyperintensities2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0006970Periventricular leukomalacia2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0007109Periventricular cysts2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0030891Periventricular white matter hyperintensities2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0006970Periventricular leukomalacia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0007109Periventricular cysts2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0007109Periventricular cysts2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0030891Periventricular white matter hyperintensities2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0006970Periventricular leukomalacia2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0030891Periventricular white matter hyperintensities2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0006970Periventricular leukomalacia2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0007109Periventricular cysts2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0007109Periventricular cysts2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0030891Periventricular white matter hyperintensities2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0006970Periventricular leukomalacia2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0030891Periventricular white matter hyperintensities2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0006970Periventricular leukomalacia2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0007109Periventricular cysts2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0030891Periventricular white matter hyperintensities2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0006970Periventricular leukomalacia2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0007109Periventricular cysts2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0030891Periventricular white matter hyperintensities2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0006970Periventricular leukomalacia2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0007109Periventricular cysts2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0030891Periventricular white matter hyperintensities2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0006970Periventricular leukomalacia2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0007109Periventricular cysts2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0030891Periventricular white matter hyperintensities2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0006970Periventricular leukomalacia2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0007109Periventricular cysts2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0030891Periventricular white matter hyperintensities2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0006970Periventricular leukomalacia2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0007109Periventricular cysts2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0030891Periventricular white matter hyperintensities2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0006970Periventricular leukomalacia2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0007109Periventricular cysts2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0030891Periventricular white matter hyperintensities2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0006970Periventricular leukomalacia2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0007109Periventricular cysts2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0030891Periventricular white matter hyperintensities2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0006970Periventricular leukomalacia2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0007109Periventricular cysts2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0007109Periventricular cysts2LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0030891Periventricular white matter hyperintensities2LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0006970Periventricular leukomalacia2LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0007109Periventricular cysts2MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0030891Periventricular white matter hyperintensities2MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0006970Periventricular leukomalacia2MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0030891Periventricular white matter hyperintensities2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0006970Periventricular leukomalacia2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0007109Periventricular cysts2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0030891Periventricular white matter hyperintensities2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0006970Periventricular leukomalacia2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0007109Periventricular cysts2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0030891Periventricular white matter hyperintensities2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0006970Periventricular leukomalacia2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0007109Periventricular cysts2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0007109Periventricular cysts2NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0030891Periventricular white matter hyperintensities2NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0006970Periventricular leukomalacia2NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0007109Periventricular cysts2NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0030891Periventricular white matter hyperintensities2NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0006970Periventricular leukomalacia2NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0007109Periventricular cysts2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0030891Periventricular white matter hyperintensities2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0006970Periventricular leukomalacia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0030891Periventricular white matter hyperintensities2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0006970Periventricular leukomalacia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0007109Periventricular cysts2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0007109Periventricular cysts2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0030891Periventricular white matter hyperintensities2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0006970Periventricular leukomalacia2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0030891Periventricular white matter hyperintensities2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0006970Periventricular leukomalacia2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0007109Periventricular cysts2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0007109Periventricular cysts2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0030891Periventricular white matter hyperintensities2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0006970Periventricular leukomalacia2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0030891Periventricular white matter hyperintensities2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0006970Periventricular leukomalacia2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0007109Periventricular cysts2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0007109Periventricular cysts2PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0030891Periventricular white matter hyperintensities2PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0006970Periventricular leukomalacia2PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0007109Periventricular cysts2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0030891Periventricular white matter hyperintensities2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0006970Periventricular leukomalacia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0030891Periventricular white matter hyperintensities2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0006970Periventricular leukomalacia2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0007109Periventricular cysts2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0007109Periventricular cysts2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0030891Periventricular white matter hyperintensities2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0006970Periventricular leukomalacia2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0030891Periventricular white matter hyperintensities2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0006970Periventricular leukomalacia2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0007109Periventricular cysts2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0007109Periventricular cysts2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0030891Periventricular white matter hyperintensities2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0006970Periventricular leukomalacia2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0030891Periventricular white matter hyperintensities2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0006970Periventricular leukomalacia2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0007109Periventricular cysts2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0030891Periventricular white matter hyperintensities2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0006970Periventricular leukomalacia2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0007109Periventricular cysts2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0030891Periventricular white matter hyperintensities2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0006970Periventricular leukomalacia2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0007109Periventricular cysts2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0007109Periventricular cysts2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0030891Periventricular white matter hyperintensities2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0006970Periventricular leukomalacia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0030891Periventricular white matter hyperintensities2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0006970Periventricular leukomalacia2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0007109Periventricular cysts2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0007109Periventricular cysts2TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0030891Periventricular white matter hyperintensities2TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0006970Periventricular leukomalacia2TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0030891Periventricular white matter hyperintensities2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0006970Periventricular leukomalacia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0007109Periventricular cysts2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0030891Periventricular white matter hyperintensities2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0006970Periventricular leukomalacia2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0007109Periventricular cysts2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0007109Periventricular cysts2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0030891Periventricular white matter hyperintensities2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0006970Periventricular leukomalacia2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0030891Periventricular white matter hyperintensities2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0006970Periventricular leukomalacia2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0007109Periventricular cysts2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0007109Periventricular cysts2YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0030891Periventricular white matter hyperintensities2YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0006970Periventricular leukomalacia2YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM146228596610194
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM12272020600570
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM112582202120130
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM125017494608803
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3MARS2 CL E G H92935314603ORPHA113025133609728
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM110518453608862
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3PLAA CL E G H9373521426ORPHA13389043603873
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM128210606184755
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002352HP:0025192