Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AMPD2 CL E G H | 271 | 469 | ORPHA:401805 | Autosomal recessive spastic paraplegia type 63 | | | | 21 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | | | | 49 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | . | | | 49 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | . | | | 44 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | | | | 141 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | HP:0040284 - Very rare | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | . | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | . | | | 60 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | | | | 29 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | . | | | 37 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | | | | 69 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | | | | 82 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040284 - Very rare | | | 35 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | | | | 7 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | | | | 93 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | | | | 35 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | . | | | 71 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MARS2 CL E G H | 92935 | 25133 | ORPHA:314603 | Autosomal recessive spastic ataxia with leukoencephalopathy | HP:0040282 - Frequent | | | 25 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MLC1 CL E G H | 23209 | 17082 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | | | | 112 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | . | | | 20 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040281 - Very frequent | | | 144 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | . | | | 89 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | | | | 118 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | | | | 37 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | | | | 98 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 464 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | HP:0040283 - Occasional | | | 37 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RPIA CL E G H | 22934 | 10297 | OMIM:608611 | Ribose 5-phosphate isomerase deficiency | . | | | 18 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SDHAF1 CL E G H | 644096 | 33867 | OMIM:619166 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2 | | | | 16 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | | | | 66 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | | | | 12 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | | | | 8 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | | | | 56 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | | | | 102 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 138 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | | | | 1 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0002352 | HP:0002352 | Leukoencephalopathy | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0002352 | HP:0006859 | Posterior leukoencephalopathy | 1 | CL E G H | | | | | | | | | | |
HP:0002352 | HP:0006980 | Progressive leukoencephalopathy | 1 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | | | | 143 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040282 - Frequent | | | 135 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AMPD2 CL E G H | 271 | 469 | ORPHA:401805 | Autosomal recessive spastic paraplegia type 63 | HP:0040283 - Occasional | | | 21 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | . | | | 21 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 49 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 48 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 41 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040283 - Occasional | | | 18 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | | | | 141 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0002352 | HP:0006980 | Progressive leukoencephalopathy | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | | | | 29 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | | | | 69 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002352 | HP:0006943 | Diffuse spongiform leukoencephalopathy | 1 | HEPACAM CL E G H | 220296 | 26361 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | . | | | 82 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ISCA2 CL E G H | 122961 | 19857 | OMIM:616370 | Multiple mitochondrial dysfunctions syndrome 4 | . | | | 7 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002352 | HP:0006980 | Progressive leukoencephalopathy | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | . | | | 93 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002352 | HP:0006994 | Diffuse leukoencephalopathy | 1 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | | | | 2 | | |
HP:0002352 | HP:0006994 | Diffuse leukoencephalopathy | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | . | | | 44 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | HP:0040283 - Occasional | | | 132 | | |
HP:0002352 | HP:0006943 | Diffuse spongiform leukoencephalopathy | 1 | MLC1 CL E G H | 23209 | 17082 | OMIM:604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | . | | | 112 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0002352 | HP:0006994 | Diffuse leukoencephalopathy | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040282 - Frequent | | | 183 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | | | | 118 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | | | | 37 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | | | | 98 | | |
HP:0002352 | HP:0006980 | Progressive leukoencephalopathy | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0002352 | HP:0006943 | Diffuse spongiform leukoencephalopathy | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 81 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | . | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002352 | HP:0006994 | Diffuse leukoencephalopathy | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0002352 | HP:0006980 | Progressive leukoencephalopathy | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040283 - Occasional | | | 12 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | | | | 6 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | HP:0040283 - Occasional | | | 8 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | . | | | 13 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 1 | | |
HP:0002352 | HP:0002518 | Abnormal periventricular white matter morphology | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0002352 | HP:0025728 | Periventricular pseudocyst | 2 | CL E G H | | | | | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | | | | 94 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040282 - Frequent | | | 29 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040283 - Occasional | | | 29 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | | | | 69 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040283 - Occasional | | | 37 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040283 - Occasional | | | 37 | | |
HP:0002352 | HP:0007109 | Periventricular cysts | 2 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0002352 | HP:0030891 | Periventricular white matter hyperintensities | 2 | TMEM222 CL E G H | 84065 | 25363 | OMIM:619470 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | HP:0040284 - Very rare | | | 1 | | |
HP:0002352 | HP:0006970 | Periventricular leukomalacia | 2 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002352 | HP:0025192 | Subtentorial periventricular white matter hyperdensity | 3 | CL E G H | | | | | | | | | | |
HP:0002352 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 3 | CL E G H | | | | | | | | | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040283 - Occasional | | | 69 | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0002352 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 3 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |