Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002510	HP:0002510	Spastic tetraplegia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0002510	HP:0002510	Spastic tetraplegia	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.	3
HP:0002510	HP:0002510	Spastic tetraplegia	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0002510	HP:0002510	Spastic tetraplegia	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0002510	HP:0002510	Spastic tetraplegia	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0002510	HP:0002510	Spastic tetraplegia	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0002510	HP:0002510	Spastic tetraplegia	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0002510	HP:0002510	Spastic tetraplegia	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0002510	HP:0002510	Spastic tetraplegia	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002510	HP:0002510	Spastic tetraplegia	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0002510	HP:0002510	Spastic tetraplegia	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0002510	HP:0002510	Spastic tetraplegia	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0002510	HP:0002510	Spastic tetraplegia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002510	HP:0002510	Spastic tetraplegia	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002510	HP:0002510	Spastic tetraplegia	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0002510	HP:0002510	Spastic tetraplegia	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0002510	HP:0002510	Spastic tetraplegia	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0002510	HP:0002510	Spastic tetraplegia	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0002510	HP:0002510	Spastic tetraplegia	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0002510	HP:0002510	Spastic tetraplegia	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0002510	HP:0002510	Spastic tetraplegia	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0002510	HP:0002510	Spastic tetraplegia	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0002510	HP:0002510	Spastic tetraplegia	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0002510	HP:0002510	Spastic tetraplegia	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0002510	HP:0002510	Spastic tetraplegia	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0002510	HP:0002510	Spastic tetraplegia	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0002510	HP:0002510	Spastic tetraplegia	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0002510	HP:0002510	Spastic tetraplegia	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0002510	HP:0002510	Spastic tetraplegia	0	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3	.
HP:0002510	HP:0002510	Spastic tetraplegia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0002510	HP:0002510	Spastic tetraplegia	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0002510	HP:0002510	Spastic tetraplegia	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0002510	HP:0002510	Spastic tetraplegia	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0002510	HP:0002510	Spastic tetraplegia	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0002510	HP:0002510	Spastic tetraplegia	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002510	HP:0002510	Spastic tetraplegia	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002510	HP:0002510	Spastic tetraplegia	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0002510	HP:0002510	Spastic tetraplegia	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0002510	HP:0002510	Spastic tetraplegia	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002510	HP:0002510	Spastic tetraplegia	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040282 - Frequent	43
HP:0002510	HP:0002510	Spastic tetraplegia	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0002510	HP:0002510	Spastic tetraplegia	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0002510	HP:0002510	Spastic tetraplegia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0002510	HP:0002510	Spastic tetraplegia	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002510	HP:0002510	Spastic tetraplegia	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0002510	HP:0002510	Spastic tetraplegia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent	108
HP:0002510	HP:0002510	Spastic tetraplegia	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0002510	HP:0002510	Spastic tetraplegia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002510	HP:0002510	Spastic tetraplegia	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0002510	HP:0002510	Spastic tetraplegia	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0002510	HP:0002510	Spastic tetraplegia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0002510	HP:0002510	Spastic tetraplegia	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0002510	HP:0002510	Spastic tetraplegia	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002510	HP:0002510	Spastic tetraplegia	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002510	HP:0002510	Spastic tetraplegia	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0002510	HP:0002510	Spastic tetraplegia	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0002510	HP:0002510	Spastic tetraplegia	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.	31
HP:0002510	HP:0002510	Spastic tetraplegia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002510	HP:0002510	Spastic tetraplegia	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0002510	HP:0002510	Spastic tetraplegia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002510	HP:0002510	Spastic tetraplegia	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0002510	HP:0002510	Spastic tetraplegia	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0002510	HP:0002510	Spastic tetraplegia	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0002510	HP:0002510	Spastic tetraplegia	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0002510	HP:0002510	Spastic tetraplegia	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0002510	HP:0002510	Spastic tetraplegia	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0002510	HP:0002510	Spastic tetraplegia	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0002510	HP:0002510	Spastic tetraplegia	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002510	HP:0002510	Spastic tetraplegia	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0002510	HP:0002510	Spastic tetraplegia	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0002510	HP:0002510	Spastic tetraplegia	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0002510	HP:0002510	Spastic tetraplegia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0002510	HP:0002510	Spastic tetraplegia	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional	4
HP:0002510	HP:0002510	Spastic tetraplegia	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0002510	HP:0002510	Spastic tetraplegia	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0002510	HP:0002510	Spastic tetraplegia	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0002510	HP:0002510	Spastic tetraplegia	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0002510	HP:0002510	Spastic tetraplegia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0002510	HP:0002510	Spastic tetraplegia	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0002510	HP:0002510	Spastic tetraplegia	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0002510	HP:0002510	Spastic tetraplegia	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0002510	HP:0002510	Spastic tetraplegia	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002510	HP:0002510	Spastic tetraplegia	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0002510	HP:0002510	Spastic tetraplegia	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0002510	HP:0002510	Spastic tetraplegia	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0002510	HP:0002510	Spastic tetraplegia	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0002510	HP:0002510	Spastic tetraplegia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002510	HP:0002510	Spastic tetraplegia	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0002510	HP:0002510	Spastic tetraplegia	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0002510	HP:0002510	Spastic tetraplegia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0002510	HP:0002510	Spastic tetraplegia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0002510	HP:0002510	Spastic tetraplegia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0002510	HP:0002510	Spastic tetraplegia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002510	HP:0002510	Spastic tetraplegia	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002510	HP:0002510	Spastic tetraplegia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0002510	HP:0002510	Spastic tetraplegia	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0002510	HP:0002510	Spastic tetraplegia	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0002510	HP:0002510	Spastic tetraplegia	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0002510	HP:0002510	Spastic tetraplegia	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002510	HP:0002510	Spastic tetraplegia	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0002510	HP:0002510	Spastic tetraplegia	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002510	HP:0002510	Spastic tetraplegia	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002510	HP:0002510	Spastic tetraplegia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0002510	HP:0002510	Spastic tetraplegia	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0002510	HP:0002510	Spastic tetraplegia	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0002510	HP:0002510	Spastic tetraplegia	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040283 - Occasional	110
HP:0002510	HP:0002510	Spastic tetraplegia	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0002510	HP:0002510	Spastic tetraplegia	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0002510	HP:0002510	Spastic tetraplegia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0002510	HP:0002510	Spastic tetraplegia	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002510	HP:0002510	Spastic tetraplegia	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0002510	HP:0002510	Spastic tetraplegia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002510	HP:0002510	Spastic tetraplegia	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0002510	HP:0002510	Spastic tetraplegia	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0002510	HP:0002510	Spastic tetraplegia	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0002510	HP:0002510	Spastic tetraplegia	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12
HP:0002510	HP:0002510	Spastic tetraplegia	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4	.	15
HP:0002510	HP:0002510	Spastic tetraplegia	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0002510	HP:0002510	Spastic tetraplegia	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0002510	HP:0002510	Spastic tetraplegia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0002510	HP:0002510	Spastic tetraplegia	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0002510	HP:0002510	Spastic tetraplegia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0002510	HP:0002510	Spastic tetraplegia	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	HP:0040283 - Occasional	14
HP:0002510	HP:0002510	Spastic tetraplegia	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0002510	HP:0002510	Spastic tetraplegia	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0002510	HP:0002510	Spastic tetraplegia	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0002510	HP:0002510	Spastic tetraplegia	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0002510	HP:0002510	Spastic tetraplegia	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0002510	HP:0002510	Spastic tetraplegia	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0002510	HP:0002510	Spastic tetraplegia	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS