Human Phenotype Ontology

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

Grandparent Node:
Upper motor neuron dysfunction (HP:0002493)

Parent Node:
Weakness due to upper motor neuron dysfunction (HP:0010549)

..Starting node
..Tetraplegia/tetraparesis (HP:0030182)

Term ID:

30182

Name:

Tetraplegia/tetraparesis

Synonym:

Definition:

Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.

Comments:

Reference:

HP:0030182

Genes and Diseases:

Child Nodes:

........

Tetraparesis (HP:0002273)

........

Tetraplegia (HP:0002445)

................... HP:0200072 Episodic quadriplegia

Sister Nodes:

Hemiplegia/hemiparesis (HP:0004374)

Paraplegia/paraparesis (HP:0010551)

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:0030182	HP:0030182	Tetraplegia/tetraparesis	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis		114
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome		166
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2		150
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1		49
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination		8
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome		8
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis		18
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7		528
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14		321
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria		34
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2		124
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type		52
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form		60
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4		244
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease		1
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040283 - Occasional
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		110
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0030182	HP:0030182	Tetraplegia/tetraparesis	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0030182	HP:0002273	Tetraparesis	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0030182	HP:0002273	Tetraparesis	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0030182	HP:0002273	Tetraparesis	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0030182	HP:0002273	Tetraparesis	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0030182	HP:0002273	Tetraparesis	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0030182	HP:0002445	Tetraplegia	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0030182	HP:0002273	Tetraparesis	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0030182	HP:0002445	Tetraplegia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0030182	HP:0002445	Tetraplegia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional	89
HP:0030182	HP:0002273	Tetraparesis	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0030182	HP:0002273	Tetraparesis	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030182	HP:0002445	Tetraplegia	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0030182	HP:0002273	Tetraparesis	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis		114
HP:0030182	HP:0002273	Tetraparesis	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030182	HP:0002445	Tetraplegia	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0030182	HP:0002273	Tetraparesis	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0030182	HP:0002273	Tetraparesis	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0030182	HP:0002445	Tetraplegia	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0030182	HP:0002445	Tetraplegia	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040283 - Occasional	166
HP:0030182	HP:0002445	Tetraplegia	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0030182	HP:0002273	Tetraparesis	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0030182	HP:0002273	Tetraparesis	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	239
HP:0030182	HP:0002445	Tetraplegia	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0030182	HP:0002273	Tetraparesis	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	150
HP:0030182	HP:0002445	Tetraplegia	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0030182	HP:0002273	Tetraparesis	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0030182	HP:0002273	Tetraparesis	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0030182	HP:0002273	Tetraparesis	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1		49
HP:0030182	HP:0002445	Tetraplegia	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.	8
HP:0030182	HP:0002445	Tetraplegia	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent	8
HP:0030182	HP:0002445	Tetraplegia	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0030182	HP:0002273	Tetraparesis	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0030182	HP:0002273	Tetraparesis	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0030182	HP:0002445	Tetraplegia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0030182	HP:0002273	Tetraparesis	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0030182	HP:0002273	Tetraparesis	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0030182	HP:0002273	Tetraparesis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030182	HP:0002273	Tetraparesis	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	449
HP:0030182	HP:0002445	Tetraplegia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0030182	HP:0002273	Tetraparesis	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0030182	HP:0002273	Tetraparesis	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0030182	HP:0002273	Tetraparesis	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0030182	HP:0002273	Tetraparesis	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0030182	HP:0002273	Tetraparesis	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0030182	HP:0002273	Tetraparesis	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0030182	HP:0002445	Tetraplegia	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0030182	HP:0002445	Tetraplegia	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0030182	HP:0002273	Tetraparesis	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0030182	HP:0002273	Tetraparesis	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0030182	HP:0002273	Tetraparesis	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0030182	HP:0002273	Tetraparesis	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis		18
HP:0030182	HP:0002273	Tetraparesis	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0030182	HP:0002273	Tetraparesis	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0030182	HP:0002273	Tetraparesis	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0030182	HP:0002273	Tetraparesis	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0030182	HP:0002273	Tetraparesis	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0030182	HP:0002273	Tetraparesis	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0030182	HP:0002445	Tetraplegia	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0030182	HP:0002273	Tetraparesis	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0030182	HP:0002445	Tetraplegia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0030182	HP:0002273	Tetraparesis	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0030182	HP:0002273	Tetraparesis	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare	160
HP:0030182	HP:0002445	Tetraplegia	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0030182	HP:0002273	Tetraparesis	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0030182	HP:0002273	Tetraparesis	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0030182	HP:0002273	Tetraparesis	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0030182	HP:0002273	Tetraparesis	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0030182	HP:0002273	Tetraparesis	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0030182	HP:0002273	Tetraparesis	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0030182	HP:0002273	Tetraparesis	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0030182	HP:0002273	Tetraparesis	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0030182	HP:0002445	Tetraplegia	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0030182	HP:0002445	Tetraplegia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0030182	HP:0002273	Tetraparesis	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0030182	HP:0002273	Tetraparesis	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0030182	HP:0002273	Tetraparesis	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7		528
HP:0030182	HP:0002445	Tetraplegia	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0030182	HP:0002445	Tetraplegia	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0030182	HP:0002273	Tetraparesis	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0030182	HP:0002273	Tetraparesis	1	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria		34
HP:0030182	HP:0002273	Tetraparesis	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0030182	HP:0002273	Tetraparesis	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030182	HP:0002273	Tetraparesis	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0030182	HP:0002273	Tetraparesis	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0030182	HP:0002273	Tetraparesis	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0030182	HP:0002273	Tetraparesis	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0030182	HP:0002273	Tetraparesis	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0030182	HP:0002273	Tetraparesis	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0030182	HP:0002445	Tetraplegia	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0030182	HP:0002273	Tetraparesis	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0030182	HP:0002273	Tetraparesis	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0030182	HP:0002445	Tetraplegia	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0030182	HP:0002273	Tetraparesis	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0030182	HP:0002445	Tetraplegia	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0030182	HP:0002273	Tetraparesis	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0030182	HP:0002445	Tetraplegia	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030182	HP:0002273	Tetraparesis	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.	22
HP:0030182	HP:0002273	Tetraparesis	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.	101
HP:0030182	HP:0002273	Tetraparesis	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent	52
HP:0030182	HP:0002273	Tetraparesis	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030182	HP:0002445	Tetraplegia	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0030182	HP:0002273	Tetraparesis	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0030182	HP:0002445	Tetraplegia	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0030182	HP:0002273	Tetraparesis	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0030182	HP:0002273	Tetraparesis	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0030182	HP:0002445	Tetraplegia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0030182	HP:0002273	Tetraparesis	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040282 - Frequent	98
HP:0030182	HP:0002273	Tetraparesis	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0030182	HP:0002273	Tetraparesis	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0030182	HP:0002273	Tetraparesis	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0030182	HP:0002273	Tetraparesis	1	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form		60
HP:0030182	HP:0002445	Tetraplegia	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.	244
HP:0030182	HP:0002273	Tetraparesis	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0030182	HP:0002273	Tetraparesis	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0030182	HP:0002273	Tetraparesis	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent	41
HP:0030182	HP:0002273	Tetraparesis	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease		1
HP:0030182	HP:0002445	Tetraplegia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0030182	HP:0002445	Tetraplegia	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0030182	HP:0002445	Tetraplegia	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0030182	HP:0002273	Tetraparesis	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0030182	HP:0002273	Tetraparesis	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0030182	HP:0002273	Tetraparesis	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0030182	HP:0002273	Tetraparesis	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0030182	HP:0002273	Tetraparesis	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0030182	HP:0002273	Tetraparesis	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0030182	HP:0002445	Tetraplegia	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	HP:0040283 - Occasional	57
HP:0030182	HP:0002273	Tetraparesis	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0030182	HP:0002273	Tetraparesis	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0030182	HP:0002273	Tetraparesis	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030182	HP:0002273	Tetraparesis	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0030182	HP:0002273	Tetraparesis	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0030182	HP:0002273	Tetraparesis	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0030182	HP:0002273	Tetraparesis	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0030182	HP:0002273	Tetraparesis	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0030182	HP:0002273	Tetraparesis	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0030182	HP:0002273	Tetraparesis	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent	110
HP:0030182	HP:0002273	Tetraparesis	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0030182	HP:0002273	Tetraparesis	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0030182	HP:0002273	Tetraparesis	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	63
HP:0030182	HP:0002273	Tetraparesis	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0030182	HP:0002273	Tetraparesis	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030182	HP:0002273	Tetraparesis	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030182	HP:0002273	Tetraparesis	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0030182	HP:0002273	Tetraparesis	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0030182	HP:0002273	Tetraparesis	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0030182	HP:0002273	Tetraparesis	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0030182	HP:0002445	Tetraplegia	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0030182	HP:0002273	Tetraparesis	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0030182	HP:0002273	Tetraparesis	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0030182	HP:0002273	Tetraparesis	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0030182	HP:0002445	Tetraplegia	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent	16
HP:0030182	HP:0002273	Tetraparesis	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0030182	HP:0002273	Tetraparesis	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0030182	HP:0002445	Tetraplegia	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0030182	HP:0002273	Tetraparesis	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0030182	HP:0002273	Tetraparesis	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0030182	HP:0002273	Tetraparesis	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0030182	HP:0002445	Tetraplegia	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0030182	HP:0002273	Tetraparesis	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0030182	HP:0002445	Tetraplegia	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0030182	HP:0002273	Tetraparesis	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0030182	HP:0002273	Tetraparesis	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0030182	HP:0002273	Tetraparesis	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0030182	HP:0002273	Tetraparesis	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0030182	HP:0002273	Tetraparesis	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0030182	HP:0002273	Tetraparesis	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0030182	HP:0001285	Spastic tetraparesis	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0030182	HP:0001285	Spastic tetraparesis	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0030182	HP:0001285	Spastic tetraparesis	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0030182	HP:0001285	Spastic tetraparesis	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0030182	HP:0001285	Spastic tetraparesis	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040283 - Occasional	37
HP:0030182	HP:0001285	Spastic tetraparesis	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0030182	HP:0001285	Spastic tetraparesis	2	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0030182	HP:0001285	Spastic tetraparesis	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0030182	HP:0001285	Spastic tetraparesis	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0030182	HP:0001285	Spastic tetraparesis	2	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0030182	HP:0200072	Episodic quadriplegia	2	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0030182	HP:0200072	Episodic quadriplegia	2	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0030182	HP:0001285	Spastic tetraparesis	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0030182	HP:0001285	Spastic tetraparesis	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0030182	HP:0001285	Spastic tetraparesis	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional	49
HP:0030182	HP:0001285	Spastic tetraparesis	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0030182	HP:0001285	Spastic tetraparesis	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040283 - Occasional
HP:0030182	HP:0001285	Spastic tetraparesis	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0030182	HP:0001285	Spastic tetraparesis	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0030182	HP:0001285	Spastic tetraparesis	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0030182	HP:0001285	Spastic tetraparesis	2	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0030182	HP:0001285	Spastic tetraparesis	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0030182	HP:0001285	Spastic tetraparesis	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0030182	HP:0001285	Spastic tetraparesis	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0030182	HP:0001285	Spastic tetraparesis	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent	7
HP:0030182	HP:0001285	Spastic tetraparesis	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0030182	HP:0001285	Spastic tetraparesis	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0030182	HP:0001285	Spastic tetraparesis	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0030182	HP:0001285	Spastic tetraparesis	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0030182	HP:0001285	Spastic tetraparesis	2	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0030182	HP:0001285	Spastic tetraparesis	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0030182	HP:0001285	Spastic tetraparesis	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0030182	HP:0001285	Spastic tetraparesis	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0030182	HP:0001285	Spastic tetraparesis	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0030182	HP:0001285	Spastic tetraparesis	2	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.	528
HP:0030182	HP:0001285	Spastic tetraparesis	2	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria	HP:0040282 - Frequent	34
HP:0030182	HP:0001285	Spastic tetraparesis	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0030182	HP:0001285	Spastic tetraparesis	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0030182	HP:0001285	Spastic tetraparesis	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0030182	HP:0001285	Spastic tetraparesis	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0030182	HP:0001285	Spastic tetraparesis	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0030182	HP:0001285	Spastic tetraparesis	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0030182	HP:0001285	Spastic tetraparesis	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0030182	HP:0001285	Spastic tetraparesis	2	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0030182	HP:0001285	Spastic tetraparesis	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0030182	HP:0001285	Spastic tetraparesis	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030182	HP:0001285	Spastic tetraparesis	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0030182	HP:0001285	Spastic tetraparesis	2	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0030182	HP:0001285	Spastic tetraparesis	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0030182	HP:0001285	Spastic tetraparesis	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0030182	HP:0001285	Spastic tetraparesis	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0030182	HP:0001285	Spastic tetraparesis	2	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040282 - Frequent	60
HP:0030182	HP:0001285	Spastic tetraparesis	2	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional	1
HP:0030182	HP:0001285	Spastic tetraparesis	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0030182	HP:0001285	Spastic tetraparesis	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0030182	HP:0001285	Spastic tetraparesis	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0030182	HP:0001285	Spastic tetraparesis	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0030182	HP:0001285	Spastic tetraparesis	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0030182	HP:0001285	Spastic tetraparesis	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0030182	HP:0001285	Spastic tetraparesis	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional	87
HP:0030182	HP:0001285	Spastic tetraparesis	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0030182	HP:0001285	Spastic tetraparesis	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030182	HP:0001285	Spastic tetraparesis	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0030182	HP:0001285	Spastic tetraparesis	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0030182	HP:0001285	Spastic tetraparesis	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0030182	HP:0001285	Spastic tetraparesis	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0030182	HP:0001285	Spastic tetraparesis	2	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0030182	HP:0001285	Spastic tetraparesis	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0030182	HP:0001285	Spastic tetraparesis	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030182	HP:0001285	Spastic tetraparesis	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0030182	HP:0001285	Spastic tetraparesis	2	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	HP:0040284 - Very rare
HP:0030182	HP:0001285	Spastic tetraparesis	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0030182	HP:0001285	Spastic tetraparesis	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0030182	HP:0001285	Spastic tetraparesis	2	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0030182	HP:0001285	Spastic tetraparesis	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52
HP:0030182	HP:0001285	Spastic tetraparesis	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0030182	HP:0001285	Spastic tetraparesis	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0030182	HP:0001285	Spastic tetraparesis	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0030182	HP:0001285	Spastic tetraparesis	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224

Genes (137) :AASS ABCD1 ADAR AFF3 AGTPBP1 AIFM1 ALDH18A1 ALG3 ALS2 APOE ARFGEF2 ARSA ARX ATP1A2 ATP1A3 ATP6 ATP6V1A AUH BCAP31 BCAS3 BSCL2 BUB1B C9ORF72 CA2 CACNA1A CACNA1S CARS2 CHCHD10 COA8 COL4A1 DOLK DPYD DYM EARS2 EIF2S3 ERLIN2 EXOSC8 FA2H FAR1 FBLN1 FGFR1 FUS GABRA3 GAD1 GALC GBE1 GJA1 GM2A GSS GUF1 HINT1 HSD17B10 IFIH1 KCNJ18 KCNJ6 KCNQ2 KCNT1 KRAS L2HGDH LIMS2 LIPT1 LIPT2 LMNB1 LMX1B LRP4 LYRM7 MC2R MFSD2A MOCS1 MRAP MRM2 NADK2 NAXE NDUFA8 NDUFS3 NEK1 NEXMIF NFU1 NHLRC2 NMNAT1 NNT NUP62 PAFAH1B1 PDHX PHACTR1 PLA2G6 PLP1 PNKP PNP POLR3K PPOX PRDM8 PRF1 PRPS1 PRUNE1 PSAP PSAT1 PSEN1 RANBP2 REEP1 RERE RNU7-1 SARDH SDHA SDHAF1 SDHB SDHD SELENOI SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC25A10 SLC35A2 SMC1A SOD1 SOX4 SQSTM1 STAMBP STAR STXBP1 TACO1 TARDBP TBCD TBCE TBK1 TFG TMEM222 TNFRSF11A TNR TRAPPC2L TRAPPC4 TXNRD2 UCHL1 UGP2 VCP WDR62

Diseases (142) :ORPHA:2203 ORPHA:139396 ORPHA:225154 OMIM:619297 OMIM:618276 OMIM:300816 OMIM:300232 ORPHA:447760 OMIM:616586 ORPHA:79321 OMIM:205100 ORPHA:293168 ORPHA:247604 OMIM:606353 OMIM:607225 OMIM:607822 OMIM:608097 OMIM:250100 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:2131 OMIM:104290 OMIM:614820 OMIM:618012 ORPHA:67046 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:615924 ORPHA:363400 OMIM:257300 OMIM:105550 ORPHA:275872 ORPHA:2785 ORPHA:79102 ORPHA:477774 OMIM:616672 OMIM:619061 ORPHA:436271 OMIM:175780 OMIM:610768 OMIM:274270 ORPHA:239 OMIM:614924 OMIM:300148 OMIM:616081 ORPHA:171629 OMIM:612319 ORPHA:438178 OMIM:616154 ORPHA:404451 ORPHA:2396 OMIM:619124 ORPHA:206448 ORPHA:206443 OMIM:263570 OMIM:164200 OMIM:272750 OMIM:266130 OMIM:617065 ORPHA:324442 ORPHA:391428 OMIM:615846 ORPHA:435628 OMIM:614098 OMIM:613720 OMIM:614959 ORPHA:79314 OMIM:236792 OMIM:616827 OMIM:616299 OMIM:617668 ORPHA:99027 OMIM:619179 ORPHA:495818 OMIM:614305 OMIM:615838 ORPHA:361 OMIM:616486 OMIM:252150 OMIM:618567 OMIM:616034 OMIM:617186 OMIM:619272 OMIM:618230 OMIM:617892 ORPHA:85277 OMIM:605711 OMIM:618278 OMIM:619260 OMIM:607432 ORPHA:95232 ORPHA:255182 OMIM:618298 ORPHA:35069 ORPHA:280219 ORPHA:280224 OMIM:616267 OMIM:613179 OMIM:619310 ORPHA:79473 ORPHA:324290 OMIM:603553 OMIM:301835 ORPHA:1187 ORPHA:423479 OMIM:617481 ORPHA:544469 OMIM:249900 ORPHA:284417 OMIM:608033 ORPHA:101011 OMIM:616975 OMIM:619487 ORPHA:3129 ORPHA:3208 ORPHA:506353 ORPHA:352649 ORPHA:263410 OMIM:607483 OMIM:617105 OMIM:618972 ORPHA:356961 OMIM:301044 OMIM:618598 OMIM:618506 OMIM:614261 OMIM:619052 ORPHA:496641 ORPHA:496756 OMIM:604484 OMIM:619470 OMIM:602080 OMIM:619653 OMIM:618331 OMIM:618741 OMIM:615491 OMIM:618744 OMIM:613954 OMIM:167320 OMIM:604317

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

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