Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal cerebral morphology (HP:0002060)

Parent Node:
Abnormal cerebral white matter morphology (HP:0002500)

Parent Node:
Leukoencephalopathy (HP:0002352)

..Starting node
..Abnormal periventricular white matter morphology (HP:0002518)

Term ID:

2518

Name:

Abnormal periventricular white matter morphology

Synonym:

Abnormality of the periventricular white matter; Periventricular white matter abnormalities

Definition:

A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.

Comments:

Reference:

HP:0002518

Genes and Diseases:

Child Nodes:

........

Periventricular leukomalacia (HP:0006970)

........

Periventricular cysts (HP:0007109)

................... HP:0000933 Posterior fossa cyst at the fourth ventricle

........

Punctate periventricular T2 hyperintense foci (HP:0030081)

Sister Nodes:

Diffuse leukoencephalopathy (HP:0006994)

Diffuse spongiform leukoencephalopathy (HP:0006943)

Posterior leukoencephalopathy (HP:0006859)

Progressive leukoencephalopathy (HP:0006980)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure		143
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040282 - Frequent	135
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040283 - Occasional	21
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	49
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	48
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	41
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	18
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent	6
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease		141
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	HP:0040283 - Occasional	132
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent	183
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	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:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W	.
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional	12
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	.	13
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent	13
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0002518	HP:0002518	Abnormal periventricular white matter morphology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0002518	HP:0025728	Periventricular pseudocyst	1	CL E G H
HP:0002518	HP:0006970	Periventricular leukomalacia	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0002518	HP:0006970	Periventricular leukomalacia	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0002518	HP:0006970	Periventricular leukomalacia	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0002518	HP:0006970	Periventricular leukomalacia	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0002518	HP:0006970	Periventricular leukomalacia	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0002518	HP:0006970	Periventricular leukomalacia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002518	HP:0006970	Periventricular leukomalacia	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002518	HP:0006970	Periventricular leukomalacia	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002518	HP:0006970	Periventricular leukomalacia	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0002518	HP:0007109	Periventricular cysts	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0002518	HP:0007109	Periventricular cysts	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002518	HP:0006970	Periventricular leukomalacia	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040283 - Occasional	29
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent	29
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0002518	HP:0006970	Periventricular leukomalacia	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0002518	HP:0006970	Periventricular leukomalacia	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0002518	HP:0006970	Periventricular leukomalacia	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002518	HP:0006970	Periventricular leukomalacia	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0002518	HP:0006970	Periventricular leukomalacia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002518	HP:0006970	Periventricular leukomalacia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002518	HP:0007109	Periventricular cysts	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002518	HP:0006970	Periventricular leukomalacia	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0002518	HP:0007109	Periventricular cysts	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002518	HP:0007109	Periventricular cysts	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002518	HP:0006970	Periventricular leukomalacia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002518	HP:0006970	Periventricular leukomalacia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002518	HP:0006970	Periventricular leukomalacia	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0002518	HP:0007109	Periventricular cysts	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002518	HP:0007109	Periventricular cysts	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0002518	HP:0006970	Periventricular leukomalacia	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0002518	HP:0006970	Periventricular leukomalacia	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0002518	HP:0006970	Periventricular leukomalacia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002518	HP:0006970	Periventricular leukomalacia	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0002518	HP:0006970	Periventricular leukomalacia	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0002518	HP:0006970	Periventricular leukomalacia	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002518	HP:0006970	Periventricular leukomalacia	1	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0002518	HP:0007109	Periventricular cysts	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0002518	HP:0007109	Periventricular cysts	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002518	HP:0007109	Periventricular cysts	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002518	HP:0007109	Periventricular cysts	1	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:0002518	HP:0006970	Periventricular leukomalacia	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0002518	HP:0006970	Periventricular leukomalacia	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002518	HP:0006970	Periventricular leukomalacia	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0002518	HP:0006970	Periventricular leukomalacia	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002518	HP:0007109	Periventricular cysts	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0002518	HP:0006970	Periventricular leukomalacia	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0002518	HP:0007109	Periventricular cysts	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional	98
HP:0002518	HP:0006970	Periventricular leukomalacia	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0002518	HP:0006970	Periventricular leukomalacia	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0002518	HP:0006970	Periventricular leukomalacia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0002518	HP:0006970	Periventricular leukomalacia	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0002518	HP:0006970	Periventricular leukomalacia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002518	HP:0006970	Periventricular leukomalacia	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002518	HP:0006970	Periventricular leukomalacia	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002518	HP:0006970	Periventricular leukomalacia	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040282 - Frequent	6
HP:0002518	HP:0006970	Periventricular leukomalacia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002518	HP:0006970	Periventricular leukomalacia	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0002518	HP:0006970	Periventricular leukomalacia	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002518	HP:0030891	Periventricular white matter hyperintensities	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002518	HP:0006970	Periventricular leukomalacia	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0002518	HP:0006970	Periventricular leukomalacia	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	HP:0040284 - Very rare	1
HP:0002518	HP:0006970	Periventricular leukomalacia	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002518	HP:0025192	Subtentorial periventricular white matter hyperdensity	2	CL E G H
HP:0002518	HP:0000933	Posterior fossa cyst at the fourth ventricle	2	CL E G H
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040283 - Occasional	69
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0002518	HP:0030081	Punctate periventricular T2 hyperintense foci	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81

Genes (124) :AARS2 ABCC9 ABCD1 ABHD16A ACP5 ACTA2 ACTL6B ALDH18A1 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARHGAP31 ARID2 ARSA ATP13A2 BRF1 CA2 CARS1 CDC42 CDK13 CLCN4 CLN5 CLPB CNBP CNKSR2 CNP CNTNAP2 CPLX1 CTBP1 CYP27A1 DDHD2 DEGS1 DLL4 DNM1L DOCK6 DPM2 DPM3 EDEM3 EOGT ERCC2 ERCC3 FA2H FARSA FCSK FGFRL1 FKRP GALC GFAP GM2A GMPPB GNB2 GTF2E2 GTF2H5 HIKESHI HK1 ISCA2 KCNN2 LAMA1 LARGE1 LETM1 LIPT2 LMX1B LONP1 LYRM7 MEF2C MMACHC MORC2 MPLKIP MTHFR NDUFC2 NEUROD2 NOTCH1 NRCAM NRROS NSD2 OCRL ODC1 OGDHL OPA1 PAK1 PC PDHA1 PDHB PDHX POMT1 POMT2 PPFIBP1 PRORP PRR12 PSAP PUF60 RAB3GAP2 RAC1 RBPJ RFWD3 RNF113A RPL10 RTTN SELENOI SEPSECS SHANK3 SON SPATA5L1 SPG11 SSR4 STRADA STXBP1 SUGCT SUMF1 TARS1 TBCK TET3 TMEM222 TPRKB TREX1 TRMT1 TSEN54 UBA1 USP7 VPS11 WARS2

Diseases (112) :OMIM:615889 OMIM:619719 ORPHA:139396 OMIM:619735 ORPHA:1855 OMIM:613834 OMIM:618468 ORPHA:447760 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 ORPHA:444072 ORPHA:2785 ORPHA:33364 ORPHA:487796 OMIM:616737 OMIM:617360 ORPHA:485350 ORPHA:228360 OMIM:619835 OMIM:602668 OMIM:301008 OMIM:619071 ORPHA:163681 OMIM:194190 OMIM:213700 ORPHA:320380 OMIM:615033 OMIM:618404 ORPHA:98673 ORPHA:329178 OMIM:618992 OMIM:619493 OMIM:612319 OMIM:619013 OMIM:618324 ORPHA:370968 ORPHA:206436 ORPHA:363722 ORPHA:309246 OMIM:619503 OMIM:616881 OMIM:618547 OMIM:616370 OMIM:619725 OMIM:615960 OMIM:608840 OMIM:617668 ORPHA:495818 ORPHA:79243 OMIM:615838 OMIM:613443 ORPHA:79282 ORPHA:466768 ORPHA:395 OMIM:619170 OMIM:618374 OMIM:619833 OMIM:618875 OMIM:309000 OMIM:619075 ORPHA:544488 OMIM:619701 OMIM:210000 OMIM:618158 OMIM:266150 ORPHA:255138 ORPHA:255182 OMIM:620024 OMIM:619737 OMIM:619539 OMIM:611721 OMIM:249900 ORPHA:508498 OMIM:212720 ORPHA:500159 OMIM:617784 OMIM:300998 ORPHA:468631 OMIM:618768 OMIM:613811 OMIM:606232 ORPHA:500150 OMIM:617140 OMIM:619616 OMIM:604360 ORPHA:370927 ORPHA:500533 ORPHA:35706 OMIM:272200 OMIM:616900 ORPHA:488632 OMIM:618798 OMIM:619470 OMIM:617731 OMIM:192315 OMIM:618302 OMIM:277470 ORPHA:1145 ORPHA:500055 ORPHA:466934 ORPHA:572798

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

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