Human Phenotype Ontology 
Grandparent Node:
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Abnormal forebrain morphology (HP:0100547)help
Parent Node:
expand
Abnormal cerebral morphology (HP:0002060)help
..Starting node
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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
..expandAbnormal cerebral subcortex morphology (HP:0010993) help
..expandAbnormal septum pellucidum morphology (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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002352HP:0002352Leukoencephalopathy0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002352HP:0002352Leukoencephalopathy0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0002352HP:0002352Leukoencephalopathy0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002352HP:0002352Leukoencephalopathy0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0002352HP:0002352Leukoencephalopathy0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002352HP:0002352Leukoencephalopathy0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0002352HP:0002352Leukoencephalopathy0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002352HP:0002352Leukoencephalopathy0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0002352HP:0002352Leukoencephalopathy0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040281 - Very frequent60
HP:0002352HP:0002352Leukoencephalopathy0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0002352HP:0002352Leukoencephalopathy0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0002352HP:0002352Leukoencephalopathy0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 6321
HP:0002352HP:0002352Leukoencephalopathy0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0002352HP:0002352Leukoencephalopathy0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0002352HP:0002352Leukoencephalopathy0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0002352HP:0002352Leukoencephalopathy0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0002352HP:0002352Leukoencephalopathy0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0002352HP:0002352Leukoencephalopathy0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0002352HP:0002352Leukoencephalopathy0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0002352HP:0002352Leukoencephalopathy0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0002352HP:0002352Leukoencephalopathy0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0002352HP:0002352Leukoencephalopathy0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0002352HP:0002352Leukoencephalopathy0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002352HP:0002352Leukoencephalopathy0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002352HP:0002352Leukoencephalopathy0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0002352HP:0002352Leukoencephalopathy0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0002352HP:0002352Leukoencephalopathy0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002352HP:0002352Leukoencephalopathy0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0002352HP:0002352Leukoencephalopathy0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0002352HP:0002352Leukoencephalopathy0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0002352HP:0002352Leukoencephalopathy0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002352HP:0002352Leukoencephalopathy0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0002352HP:0002352Leukoencephalopathy0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0002352HP:0002352Leukoencephalopathy0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0002352HP:0002352Leukoencephalopathy0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002352HP:0002352Leukoencephalopathy0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia.44
HP:0002352HP:0002352Leukoencephalopathy0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0002352HP:0002352Leukoencephalopathy0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0002352HP:0002352Leukoencephalopathy0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0002352HP:0002352Leukoencephalopathy0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0002352HP:0002352Leukoencephalopathy0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0002352HP:0002352Leukoencephalopathy0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002352HP:0002352Leukoencephalopathy0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002352HP:0002352Leukoencephalopathy0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002352HP:0002352Leukoencephalopathy0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3HP:0040284 - Very rare
HP:0002352HP:0002352Leukoencephalopathy0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002352HP:0002352Leukoencephalopathy0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0002352HP:0002352Leukoencephalopathy0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0002352HP:0002352Leukoencephalopathy0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0002352HP:0002352Leukoencephalopathy0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0002352HP:0002352Leukoencephalopathy0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0002352HP:0002352Leukoencephalopathy0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0002352HP:0002352Leukoencephalopathy0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0002352HP:0002352Leukoencephalopathy0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002352HP:0002352Leukoencephalopathy0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0002352HP:0002352Leukoencephalopathy0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0002352HP:0002352Leukoencephalopathy0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0002352HP:0002352Leukoencephalopathy0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0002352HP:0002352Leukoencephalopathy0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0002352HP:0002352Leukoencephalopathy0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0002352HP:0002352Leukoencephalopathy0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0002352HP:0002352Leukoencephalopathy0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0002352HP:0002352Leukoencephalopathy0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0002352HP:0002352Leukoencephalopathy0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0002352HP:0002352Leukoencephalopathy0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0002352HP:0002352Leukoencephalopathy0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002352HP:0002352Leukoencephalopathy0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0002352HP:0002352Leukoencephalopathy0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0002352HP:0002352Leukoencephalopathy0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0002352HP:0002352Leukoencephalopathy0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0002352HP:0002352Leukoencephalopathy0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0002352HP:0002352Leukoencephalopathy0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0002352HP:0002352Leukoencephalopathy0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0002352HP:0002352Leukoencephalopathy0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0002352HP:0002352Leukoencephalopathy0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0002352HP:0002352Leukoencephalopathy0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002352HP:0002352Leukoencephalopathy0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0002352HP:0002352Leukoencephalopathy0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0002352HP:0002352Leukoencephalopathy0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0002352HP:0002352Leukoencephalopathy0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0002352HP:0002352Leukoencephalopathy0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0002352HP:0002352Leukoencephalopathy0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002352HP:0002352Leukoencephalopathy0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0002352HP:0002352Leukoencephalopathy0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0002352HP:0002352Leukoencephalopathy0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0002352HP:0002352Leukoencephalopathy0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002352HP:0002352Leukoencephalopathy0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0002352HP:0002352Leukoencephalopathy0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0002352HP:0002352Leukoencephalopathy0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 182
HP:0002352HP:0002352Leukoencephalopathy0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040283 - Occasional32
HP:0002352HP:0002352Leukoencephalopathy0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 133
HP:0002352HP:0002352Leukoencephalopathy0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002352HP:0002352Leukoencephalopathy0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0002352HP:0002352Leukoencephalopathy0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0002352HP:0002352Leukoencephalopathy0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 47
HP:0002352HP:0002352Leukoencephalopathy0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002352HP:0002352Leukoencephalopathy0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002352HP:0002352Leukoencephalopathy0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal93
HP:0002352HP:0002352Leukoencephalopathy0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0002352HP:0002352Leukoencephalopathy0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome35
HP:0002352HP:0002352Leukoencephalopathy0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 5.71
HP:0002352HP:0002352Leukoencephalopathy0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0002352HP:0002352Leukoencephalopathy0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0002352HP:0002352Leukoencephalopathy0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0002352HP:0002352Leukoencephalopathy0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0002352HP:0002352Leukoencephalopathy0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0002352HP:0002352Leukoencephalopathy0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0002352HP:0002352Leukoencephalopathy0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0002352HP:0002352Leukoencephalopathy0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0002352HP:0002352Leukoencephalopathy0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0002352HP:0002352Leukoencephalopathy0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002352HP:0002352Leukoencephalopathy0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0002352HP:0002352Leukoencephalopathy0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0002352HP:0002352Leukoencephalopathy0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0002352HP:0002352Leukoencephalopathy0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1112
HP:0002352HP:0002352Leukoencephalopathy0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0002352HP:0002352Leukoencephalopathy0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0002352HP:0002352Leukoencephalopathy0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0002352HP:0002352Leukoencephalopathy0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002352HP:0002352Leukoencephalopathy0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0002352HP:0002352Leukoencephalopathy0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency183
HP:0002352HP:0002352Leukoencephalopathy0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0002352HP:0002352Leukoencephalopathy0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002352HP:0002352Leukoencephalopathy0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002352HP:0002352Leukoencephalopathy0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002352HP:0002352Leukoencephalopathy0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0002352HP:0002352Leukoencephalopathy0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0002352HP:0002352Leukoencephalopathy0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0002352HP:0002352Leukoencephalopathy0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002352HP:0002352Leukoencephalopathy0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0002352HP:0002352Leukoencephalopathy0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0002352HP:0002352Leukoencephalopathy0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0002352HP:0002352Leukoencephalopathy0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0002352HP:0002352Leukoencephalopathy0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002352HP:0002352Leukoencephalopathy0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0002352HP:0002352Leukoencephalopathy0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0002352HP:0002352Leukoencephalopathy0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0002352HP:0002352Leukoencephalopathy0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0002352HP:0002352Leukoencephalopathy0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0002352HP:0002352Leukoencephalopathy0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0002352HP:0002352Leukoencephalopathy0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0002352HP:0002352Leukoencephalopathy0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0002352HP:0002352Leukoencephalopathy0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0002352HP:0002352Leukoencephalopathy0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0002352HP:0002352Leukoencephalopathy0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0002352HP:0002352Leukoencephalopathy0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0002352HP:0002352Leukoencephalopathy0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0002352HP:0002352Leukoencephalopathy0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002352HP:0002352Leukoencephalopathy0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002352HP:0002352Leukoencephalopathy0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0002352HP:0002352Leukoencephalopathy0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002352HP:0002352Leukoencephalopathy0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0002352HP:0002352Leukoencephalopathy0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0002352HP:0002352Leukoencephalopathy0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040281 - Very frequent144
HP:0002352HP:0002352Leukoencephalopathy0NRCAM CL E G H48977994OMIM:6198332
HP:0002352HP:0002352Leukoencephalopathy0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0002352HP:0002352Leukoencephalopathy0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0002352HP:0002352Leukoencephalopathy0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0002352HP:0002352Leukoencephalopathy0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0002352HP:0002352Leukoencephalopathy0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0002352HP:0002352Leukoencephalopathy0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0002352HP:0002352Leukoencephalopathy0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0002352HP:0002352Leukoencephalopathy0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0002352HP:0002352Leukoencephalopathy0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic form214
HP:0002352HP:0002352Leukoencephalopathy0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002352HP:0002352Leukoencephalopathy0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002352HP:0002352Leukoencephalopathy0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0002352HP:0002352Leukoencephalopathy0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0002352HP:0002352Leukoencephalopathy0PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency37
HP:0002352HP:0002352Leukoencephalopathy0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency98
HP:0002352HP:0002352Leukoencephalopathy0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002352HP:0002352Leukoencephalopathy0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002352HP:0002352Leukoencephalopathy0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0002352HP:0002352Leukoencephalopathy0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002352HP:0002352Leukoencephalopathy0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0002352HP:0002352Leukoencephalopathy0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0002352HP:0002352Leukoencephalopathy0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0002352HP:0002352Leukoencephalopathy0PPFIBP1 CL E G H84969249OMIM:620024
HP:0002352HP:0002352Leukoencephalopathy0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002352HP:0002352Leukoencephalopathy0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002352HP:0002352Leukoencephalopathy0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002352HP:0002352Leukoencephalopathy0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency81
HP:0002352HP:0002352Leukoencephalopathy0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0002352HP:0002352Leukoencephalopathy0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency81
HP:0002352HP:0002352Leukoencephalopathy0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002352HP:0002352Leukoencephalopathy0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002352HP:0002352Leukoencephalopathy0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0002352HP:0002352Leukoencephalopathy0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0002352HP:0002352Leukoencephalopathy0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002352HP:0002352Leukoencephalopathy0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0002352HP:0002352Leukoencephalopathy0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0002352HP:0002352Leukoencephalopathy0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0002352HP:0002352Leukoencephalopathy0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0002352HP:0002352Leukoencephalopathy0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0002352HP:0002352Leukoencephalopathy0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002352HP:0002352Leukoencephalopathy0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0002352HP:0002352Leukoencephalopathy0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002352HP:0002352Leukoencephalopathy0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0002352HP:0002352Leukoencephalopathy0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0002352HP:0002352Leukoencephalopathy0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0002352HP:0002352Leukoencephalopathy0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0002352HP:0002352Leukoencephalopathy0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0002352HP:0002352Leukoencephalopathy0SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0002352HP:0002352Leukoencephalopathy0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002352HP:0002352Leukoencephalopathy0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66
HP:0002352HP:0002352Leukoencephalopathy0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0002352HP:0002352Leukoencephalopathy0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0002352HP:0002352Leukoencephalopathy0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0002352HP:0002352Leukoencephalopathy0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0002352HP:0002352Leukoencephalopathy0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002352HP:0002352Leukoencephalopathy0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002352HP:0002352Leukoencephalopathy0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0002352HP:0002352Leukoencephalopathy0SSR4 CL E G H674811326ORPHA:370927SSR4-CDG12
HP:0002352HP:0002352Leukoencephalopathy0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0002352HP:0002352Leukoencephalopathy0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0002352HP:0002352Leukoencephalopathy0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0002352HP:0002352Leukoencephalopathy0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 38
HP:0002352HP:0002352Leukoencephalopathy0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency80
HP:0002352HP:0002352Leukoencephalopathy0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0002352HP:0002352Leukoencephalopathy0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0002352HP:0002352Leukoencephalopathy0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0002352HP:0002352Leukoencephalopathy0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0002352HP:0002352Leukoencephalopathy0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002352HP:0002352Leukoencephalopathy0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0002352HP:0002352Leukoencephalopathy0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0002352HP:0002352Leukoencephalopathy0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002352HP:0002352Leukoencephalopathy0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0002352HP:0002352Leukoencephalopathy0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0002352HP:0002352Leukoencephalopathy0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002352HP:0002352Leukoencephalopathy0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0002352HP:0002352Leukoencephalopathy0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy56
HP:0002352HP:0002352Leukoencephalopathy0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0002352HP:0002352Leukoencephalopathy0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0002352HP:0002352Leukoencephalopathy0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0002352HP:0002352Leukoencephalopathy0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0002352HP:0002352Leukoencephalopathy0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002352HP:0002352Leukoencephalopathy0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002352HP:0002352Leukoencephalopathy0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0002352HP:0002352Leukoencephalopathy0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0002352HP:0002352Leukoencephalopathy0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0002352HP:0002352Leukoencephalopathy0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0002352HP:0002352Leukoencephalopathy0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophy1
HP:0002352HP:0002352Leukoencephalopathy0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0002352HP:0002352Leukoencephalopathy0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0002352HP:0002352Leukoencephalopathy0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0002352HP:0006859Posterior leukoencephalopathy1 CL E G H
HP:0002352HP:0006980Progressive leukoencephalopathy1AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure143
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040282 - Frequent135
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 63HP:0040283 - Occasional21
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive.21
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0002352HP:0002518Abnormal periventricular white matter morphology1AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040282 - Frequent100
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002352HP:0002518Abnormal periventricular white matter morphology1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040282 - Frequent6
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002352HP:0006980Progressive leukoencephalopathy1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040281 - Very frequent
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0002352HP:0002518Abnormal periventricular white matter morphology1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0002352HP:0002518Abnormal periventricular white matter morphology1DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002352HP:0002518Abnormal periventricular white matter morphology1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0002352HP:0002518Abnormal periventricular white matter morphology1FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0002352HP:0002518Abnormal periventricular white matter morphology1FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002352HP:0002518Abnormal periventricular white matter morphology1FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0002352HP:0002518Abnormal periventricular white matter morphology1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0002352HP:0002518Abnormal periventricular white matter morphology1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0002352HP:0002518Abnormal periventricular white matter morphology1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0002352HP:0002518Abnormal periventricular white matter morphology1HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0002352HP:0002518Abnormal periventricular white matter morphology1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0002352HP:0002518Abnormal periventricular white matter morphology1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002352HP:0006980Progressive leukoencephalopathy1KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0002352HP:0006994Diffuse leukoencephalopathy1LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0002352HP:0006994Diffuse leukoencephalopathy1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0002352HP:0002518Abnormal periventricular white matter morphology1LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20HP:0040283 - Occasional132
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0002352HP:0006994Diffuse leukoencephalopathy1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002352HP:0002518Abnormal periventricular white matter morphology1MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040282 - Frequent183
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NRCAM CL E G H48977994OMIM:6198332
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0002352HP:0002518Abnormal periventricular white matter morphology1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0002352HP:0002518Abnormal periventricular white matter morphology1OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0002352HP:0002518Abnormal periventricular white matter morphology1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0002352HP:0002518Abnormal periventricular white matter morphology1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0002352HP:0002518Abnormal periventricular white matter morphology1OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0002352HP:0002518Abnormal periventricular white matter morphology1OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency37
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency98
HP:0002352HP:0006980Progressive leukoencephalopathy1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002352HP:0002518Abnormal periventricular white matter morphology1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0002352HP:0002518Abnormal periventricular white matter morphology1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PPFIBP1 CL E G H84969249OMIM:620024
HP:0002352HP:0006943Diffuse spongiform leukoencephalopathy1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W.
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0002352HP:0006994Diffuse leukoencephalopathy1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002352HP:0002518Abnormal periventricular white matter morphology1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0002352HP:0006980Progressive leukoencephalopathy1SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SSR4 CL E G H674811326ORPHA:370927SSR4-CDGHP:0040283 - Occasional12
HP:0002352HP:0002518Abnormal periventricular white matter morphology1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0002352HP:0002518Abnormal periventricular white matter morphology1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040283 - Occasional8
HP:0002352HP:0002518Abnormal periventricular white matter morphology1SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.13
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0002352HP:0002518Abnormal periventricular white matter morphology1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0002352HP:0002518Abnormal periventricular white matter morphology1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0002352HP:0002518Abnormal periventricular white matter morphology1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0002352HP:0002518Abnormal periventricular white matter morphology1VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0002352HP:0002518Abnormal periventricular white matter morphology1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0002352HP:0025728Periventricular pseudocyst2 CL E G H
HP:0002352HP:0006970Periventricular leukomalacia2AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0002352HP:0030891Periventricular white matter hyperintensities2ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002352HP:0030891Periventricular white matter hyperintensities2ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002352HP:0030891Periventricular white matter hyperintensities2ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002352HP:0030891Periventricular white matter hyperintensities2ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0002352HP:0006970Periventricular leukomalacia2ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0002352HP:0006970Periventricular leukomalacia2ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0002352HP:0006970Periventricular leukomalacia2ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0002352HP:0030891Periventricular white matter hyperintensities2ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002352HP:0030891Periventricular white matter hyperintensities2ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002352HP:0030891Periventricular white matter hyperintensities2ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0002352HP:0006970Periventricular leukomalacia2BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0002352HP:0006970Periventricular leukomalacia2CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002352HP:0006970Periventricular leukomalacia2CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002352HP:0006970Periventricular leukomalacia2CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0002352HP:0030891Periventricular white matter hyperintensities2CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002352HP:0030891Periventricular white matter hyperintensities2CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0002352HP:0030891Periventricular white matter hyperintensities2CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002352HP:0030891Periventricular white matter hyperintensities2CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002352HP:0006970Periventricular leukomalacia2CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002352HP:0007109Periventricular cysts2CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0002352HP:0007109Periventricular cysts2CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0002352HP:0030891Periventricular white matter hyperintensities2DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040282 - Frequent29
HP:0002352HP:0006970Periventricular leukomalacia2DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040283 - Occasional29
HP:0002352HP:0030891Periventricular white matter hyperintensities2DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0002352HP:0006970Periventricular leukomalacia2DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0002352HP:0006970Periventricular leukomalacia2DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0002352HP:0006970Periventricular leukomalacia2EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002352HP:0006970Periventricular leukomalacia2EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0002352HP:0006970Periventricular leukomalacia2ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0002352HP:0006970Periventricular leukomalacia2ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0002352HP:0007109Periventricular cysts2FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002352HP:0006970Periventricular leukomalacia2FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0002352HP:0007109Periventricular cysts2FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0002352HP:0007109Periventricular cysts2GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002352HP:0030891Periventricular white matter hyperintensities2GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0002352HP:0030891Periventricular white matter hyperintensities2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002352HP:0006970Periventricular leukomalacia2GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0002352HP:0006970Periventricular leukomalacia2GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002352HP:0006970Periventricular leukomalacia2HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002352HP:0007109Periventricular cysts2LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0002352HP:0007109Periventricular cysts2LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0002352HP:0006970Periventricular leukomalacia2LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0002352HP:0030891Periventricular white matter hyperintensities2MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0002352HP:0006970Periventricular leukomalacia2MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0002352HP:0006970Periventricular leukomalacia2MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0002352HP:0006970Periventricular leukomalacia2NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002352HP:0030891Periventricular white matter hyperintensities2NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0002352HP:0006970Periventricular leukomalacia2NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0002352HP:0006970Periventricular leukomalacia2NRCAM CL E G H48977994OMIM:6198332
HP:0002352HP:0006970Periventricular leukomalacia2NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0002352HP:0007109Periventricular cysts2NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0002352HP:0007109Periventricular cysts2OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0002352HP:0007109Periventricular cysts2ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0002352HP:0007109Periventricular cysts2ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0002352HP:0006970Periventricular leukomalacia2OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0002352HP:0006970Periventricular leukomalacia2OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002352HP:0030891Periventricular white matter hyperintensities2PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002352HP:0006970Periventricular leukomalacia2PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0002352HP:0006970Periventricular leukomalacia2PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0002352HP:0007109Periventricular cysts2PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040283 - Occasional37
HP:0002352HP:0006970Periventricular leukomalacia2PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040283 - Occasional37
HP:0002352HP:0007109Periventricular cysts2PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040283 - Occasional98
HP:0002352HP:0006970Periventricular leukomalacia2PPFIBP1 CL E G H84969249OMIM:620024
HP:0002352HP:0030891Periventricular white matter hyperintensities2PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002352HP:0006970Periventricular leukomalacia2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002352HP:0030891Periventricular white matter hyperintensities2PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002352HP:0030891Periventricular white matter hyperintensities2PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002352HP:0030891Periventricular white matter hyperintensities2PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0002352HP:0006970Periventricular leukomalacia2PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0002352HP:0030891Periventricular white matter hyperintensities2RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002352HP:0006970Periventricular leukomalacia2RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0002352HP:0006970Periventricular leukomalacia2RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002352HP:0030891Periventricular white matter hyperintensities2RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002352HP:0030891Periventricular white matter hyperintensities2SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002352HP:0006970Periventricular leukomalacia2SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002352HP:0006970Periventricular leukomalacia2SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002352HP:0006970Periventricular leukomalacia2SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002352HP:0030891Periventricular white matter hyperintensities2STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040282 - Frequent6
HP:0002352HP:0006970Periventricular leukomalacia2TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002352HP:0006970Periventricular leukomalacia2TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0002352HP:0006970Periventricular leukomalacia2TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002352HP:0030891Periventricular white matter hyperintensities2TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002352HP:0006970Periventricular leukomalacia2TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0002352HP:0006970Periventricular leukomalacia2TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68HP:0040284 - Very rare1
HP:0002352HP:0006970Periventricular leukomalacia2USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002352HP:0025192Subtentorial periventricular white matter hyperdensity3 CL E G H
HP:0002352HP:0000933Posterior fossa cyst at the fourth ventricle3 CL E G H
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040283 - Occasional69
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0002352HP:0030081Punctate periventricular T2 hyperintense foci3PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81


Genes (218) :AARS1 AARS2 ABCC9 ABCD1 ABHD16A ACP5 ACTA2 ACTL6B AIFM1 ALDH18A1 ALG8 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARHGAP31 ARID2 ARSA ATP13A2 AUH B3GALNT2 BRF1 CA2 CARS1 CDC42 CDK13 CLCN2 CLCN4 CLN5 CLN6 CLPB CNBP CNKSR2 CNP CNTNAP2 COA7 COA8 COL4A1 COLGALT1 CPLX1 CSF1R CTBP1 CTC1 CYP27A1 DARS1 DARS2 DDHD2 DEGS1 DLL4 DNM1L DOCK6 DPM2 DPM3 EARS2 EDEM3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EOGT ERCC2 ERCC3 FA2H FARSA FCSK FGFRL1 FKRP FOXRED1 GALC GFAP GJC2 GM2A GMPPB GNB2 GTF2E2 GTF2H5 HEPACAM HIBCH HIKESHI HK1 HMGCL HTRA1 ISCA2 KARS1 KCNN2 KIF5A L2HGDH LAMA1 LAMB1 LARGE1 LETM1 LIG3 LIPT2 LMNB1 LMX1B LONP1 LYRM7 MARS2 MEF2C MLC1 MMACHC MORC2 MPLKIP MPV17 MRPS22 MTHFR NAXE ND1 ND2 ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD2 NFE2L2 NFU1 NMNAT1 NOTCH1 NOTCH2NLC NOTCH3 NRCAM NRROS NSD2 NUBPL OCRL ODC1 OGDHL OPA1 PAK1 PC PDHA1 PDHB PDHX PLAA PMPCB POLG POMT1 POMT2 PPFIBP1 PRNP PRORP PRR12 PSAP PUF60 RAB3GAP2 RAC1 RBPJ RFWD3 RNASET2 RNF113A RNU7-1 RPIA RPL10 RRM2B RTTN SAMHD1 SCP2 SDHA SDHAF1 SELENOI SEPSECS SHANK3 SNORD118 SON SPATA5L1 SPG11 SSR4 STRADA STXBP1 SUCLG1 SUGCT SUMF1 SURF1 TARS1 TBCK TET3 TIMMDC1 TMEM126B TMEM222 TMEM70 TPRKB TREM2 TREX1 TRMT1 TRNN TRNS1 TSEN54 TTC5 TYMP TYROBP UBA1 USP7 VPS11 WARS2 YME1L1

Diseases (182) :OMIM:619661 OMIM:615889 OMIM:619719 ORPHA:139396 OMIM:619735 ORPHA:1855 OMIM:613834 OMIM:618468 ORPHA:83629 ORPHA:447760 ORPHA:79325 ORPHA:401805 OMIM:615686 ORPHA:280763 OMIM:614066 OMIM:613647 ORPHA:974 OMIM:100300 OMIM:617808 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:513436 OMIM:617225 OMIM:250950 OMIM:615181 ORPHA:444072 ORPHA:2785 ORPHA:33364 ORPHA:487796 OMIM:616737 OMIM:617360 OMIM:615651 ORPHA:485350 ORPHA:228360 OMIM:204300 OMIM:619835 OMIM:602668 OMIM:301008 OMIM:619071 ORPHA:163681 OMIM:618387 ORPHA:436271 OMIM:611773 OMIM:175780 OMIM:618360 OMIM:194190 OMIM:221820 OMIM:612199 OMIM:213700 OMIM:615281 OMIM:611105 ORPHA:320380 OMIM:615033 OMIM:618404 ORPHA:98673 ORPHA:329178 OMIM:618992 OMIM:614924 OMIM:619493 OMIM:603896 OMIM:612319 OMIM:619013 OMIM:618324 ORPHA:370968 ORPHA:2609 ORPHA:206436 ORPHA:363722 OMIM:613206 ORPHA:309246 OMIM:619503 OMIM:604004 ORPHA:88639 OMIM:616881 OMIM:618547 ORPHA:20 OMIM:600142 OMIM:616370 OMIM:619147 OMIM:619725 OMIM:617235 OMIM:236792 OMIM:615960 OMIM:615191 OMIM:608840 OMIM:619780 ORPHA:298 OMIM:617668 OMIM:169500 ORPHA:495818 ORPHA:79243 OMIM:615838 ORPHA:314603 OMIM:611390 OMIM:613443 ORPHA:79282 ORPHA:466768 OMIM:256810 OMIM:611719 ORPHA:395 OMIM:617186 OMIM:618233 OMIM:619170 OMIM:618226 OMIM:252010 OMIM:618374 OMIM:617744 OMIM:605711 OMIM:619260 OMIM:603472 OMIM:619473 OMIM:125310 ORPHA:136 OMIM:619833 OMIM:618875 OMIM:618242 OMIM:309000 OMIM:619075 ORPHA:544488 OMIM:619701 OMIM:210000 OMIM:618158 OMIM:266150 ORPHA:255138 ORPHA:255182 OMIM:617527 ORPHA:521426 OMIM:617954 OMIM:603041 OMIM:620024 ORPHA:282166 OMIM:619737 OMIM:619539 OMIM:611721 OMIM:249900 ORPHA:508498 OMIM:212720 ORPHA:500159 OMIM:617784 OMIM:612951 OMIM:619487 OMIM:608611 OMIM:300998 ORPHA:468631 OMIM:612952 OMIM:613724 OMIM:252011 OMIM:619166 OMIM:618768 OMIM:613811 OMIM:606232 ORPHA:542310 OMIM:614561 ORPHA:500150 OMIM:617140 OMIM:619616 OMIM:604360 ORPHA:370927 ORPHA:500533 ORPHA:17 ORPHA:35706 OMIM:272200 OMIM:220110 OMIM:616900 ORPHA:488632 OMIM:618798 OMIM:619470 OMIM:614052 OMIM:617731 OMIM:618193 OMIM:225750 OMIM:192315 OMIM:618302 OMIM:277470 OMIM:619244 OMIM:221770 ORPHA:1145 ORPHA:500055 ORPHA:466934 OMIM:617710 ORPHA:572798 OMIM:617302
 

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