Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002352	HP:0002352	Leukoencephalopathy	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0002352	Leukoencephalopathy	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0002352	Leukoencephalopathy	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0002352	Leukoencephalopathy	0	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0002352	Leukoencephalopathy	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0002352	Leukoencephalopathy	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0002352	Leukoencephalopathy	0	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0002352	Leukoencephalopathy	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0002352	Leukoencephalopathy	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0002352	Leukoencephalopathy	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0002352	Leukoencephalopathy	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0002352	Leukoencephalopathy	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0002352	Leukoencephalopathy	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0002352	Leukoencephalopathy	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0002352	Leukoencephalopathy	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0002352	Leukoencephalopathy	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0002352	Leukoencephalopathy	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0002352	Leukoencephalopathy	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0002352	Leukoencephalopathy	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0002352	Leukoencephalopathy	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0002352	Leukoencephalopathy	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0002352	Leukoencephalopathy	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0002352	Leukoencephalopathy	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0002352	Leukoencephalopathy	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0002352	Leukoencephalopathy	0	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0002352	Leukoencephalopathy	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0002352	Leukoencephalopathy	0	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0002352	Leukoencephalopathy	0	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0002352	Leukoencephalopathy	0	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0002352	Leukoencephalopathy	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0002352	Leukoencephalopathy	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0002352	Leukoencephalopathy	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0002352	Leukoencephalopathy	0	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0002352	Leukoencephalopathy	0	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0002352	Leukoencephalopathy	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0002352	Leukoencephalopathy	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0002352	Leukoencephalopathy	0	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0002352	Leukoencephalopathy	0	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0002352	Leukoencephalopathy	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0002352	Leukoencephalopathy	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0002352	Leukoencephalopathy	0	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0002352	Leukoencephalopathy	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0002352	Leukoencephalopathy	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0002352	Leukoencephalopathy	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0002352	Leukoencephalopathy	0	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0002352	Leukoencephalopathy	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0002352	Leukoencephalopathy	0	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0002352	Leukoencephalopathy	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0002352	Leukoencephalopathy	0	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0002352	Leukoencephalopathy	0	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0002352	Leukoencephalopathy	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0002352	Leukoencephalopathy	0	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0002352	Leukoencephalopathy	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0002352	Leukoencephalopathy	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0002352	Leukoencephalopathy	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0002352	Leukoencephalopathy	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0002352	Leukoencephalopathy	0	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0006980	Progressive leukoencephalopathy	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0006859	Posterior leukoencephalopathy	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0002518	Abnormal periventricular white matter morphology	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0006943	Diffuse spongiform leukoencephalopathy	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0006994	Diffuse leukoencephalopathy	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0006970	Periventricular leukomalacia	2	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0007109	Periventricular cysts	2	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0006970	Periventricular leukomalacia	2	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0007109	Periventricular cysts	2	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0007109	Periventricular cysts	2	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0006970	Periventricular leukomalacia	2	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0007109	Periventricular cysts	2	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0006970	Periventricular leukomalacia	2	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0006970	Periventricular leukomalacia	2	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0007109	Periventricular cysts	2	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0007109	Periventricular cysts	2	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0007109	Periventricular cysts	2	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0007109	Periventricular cysts	2	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0007109	Periventricular cysts	2	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0007109	Periventricular cysts	2	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0007109	Periventricular cysts	2	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0007109	Periventricular cysts	2	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0006970	Periventricular leukomalacia	2	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0007109	Periventricular cysts	2	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0006970	Periventricular leukomalacia	2	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0007109	Periventricular cysts	2	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0006970	Periventricular leukomalacia	2	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0007109	Periventricular cysts	2	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0007109	Periventricular cysts	2	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0006970	Periventricular leukomalacia	2	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0006970	Periventricular leukomalacia	2	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0007109	Periventricular cysts	2	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0007109	Periventricular cysts	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0006970	Periventricular leukomalacia	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0006970	Periventricular leukomalacia	2	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0007109	Periventricular cysts	2	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0006970	Periventricular leukomalacia	2	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0007109	Periventricular cysts	2	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0006970	Periventricular leukomalacia	2	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0007109	Periventricular cysts	2	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0006970	Periventricular leukomalacia	2	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0007109	Periventricular cysts	2	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0006970	Periventricular leukomalacia	2	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0007109	Periventricular cysts	2	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0006970	Periventricular leukomalacia	2	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0007109	Periventricular cysts	2	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0006970	Periventricular leukomalacia	2	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0007109	Periventricular cysts	2	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0006970	Periventricular leukomalacia	2	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0007109	Periventricular cysts	2	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0006970	Periventricular leukomalacia	2	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0007109	Periventricular cysts	2	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0007109	Periventricular cysts	2	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0006970	Periventricular leukomalacia	2	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0007109	Periventricular cysts	2	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0006970	Periventricular leukomalacia	2	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0006970	Periventricular leukomalacia	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0007109	Periventricular cysts	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0006970	Periventricular leukomalacia	2	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0007109	Periventricular cysts	2	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0006970	Periventricular leukomalacia	2	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0007109	Periventricular cysts	2	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0007109	Periventricular cysts	2	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0007109	Periventricular cysts	2	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0007109	Periventricular cysts	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0007109	Periventricular cysts	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0007109	Periventricular cysts	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0007109	Periventricular cysts	2	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0007109	Periventricular cysts	2	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0006970	Periventricular leukomalacia	2	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0006970	Periventricular leukomalacia	2	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0007109	Periventricular cysts	2	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0007109	Periventricular cysts	2	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0006970	Periventricular leukomalacia	2	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0007109	Periventricular cysts	2	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0006970	Periventricular leukomalacia	2	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0006970	Periventricular leukomalacia	2	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0007109	Periventricular cysts	2	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0007109	Periventricular cysts	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0006970	Periventricular leukomalacia	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0006970	Periventricular leukomalacia	2	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0007109	Periventricular cysts	2	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0007109	Periventricular cysts	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0006970	Periventricular leukomalacia	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0006970	Periventricular leukomalacia	2	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0007109	Periventricular cysts	2	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0006970	Periventricular leukomalacia	2	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0007109	Periventricular cysts	2	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0006970	Periventricular leukomalacia	2	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0007109	Periventricular cysts	2	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0007109	Periventricular cysts	2	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0006970	Periventricular leukomalacia	2	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0006970	Periventricular leukomalacia	2	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0007109	Periventricular cysts	2	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0007109	Periventricular cysts	2	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0006970	Periventricular leukomalacia	2	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0006970	Periventricular leukomalacia	2	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0007109	Periventricular cysts	2	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0006970	Periventricular leukomalacia	2	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0007109	Periventricular cysts	2	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0007109	Periventricular cysts	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0006970	Periventricular leukomalacia	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0006970	Periventricular leukomalacia	2	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0007109	Periventricular cysts	2	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0007109	Periventricular cysts	2	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0030891	Periventricular white matter hyperintensities	2	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0006970	Periventricular leukomalacia	2	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	96	12843	607472
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	197	890	600529
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	462	28596	610194
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	CLCN2 CL E G H	1181	615651	Leukoencephalopathy with ataxia	615651	C3810242	OMIM	1	227	2020	600570
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	1	1258	2202	120130
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	253	29419	612799
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	179	20499	609584
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	MARS2 CL E G H	92935	314603				ORPHA	1	130	25133	609728
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	105	18453	608862
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	154	7782	600492
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	PLAA CL E G H	9373	521426				ORPHA	1	338	9043	603873
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	SCP2 CL E G H	6342	613724	Leukoencephalopathy with dystonia and motor neuropathy	613724	C3150990	OMIM	1	282	10606	184755
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	252	26050	612418
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0002352	HP:0025192	Subtentorial periventricular white matter hyperdensity	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0030081	Punctate periventricular T2 hyperintense foci	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0002352	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0002352	HP:0025192