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

..Starting node
..Appendicular spasticity (HP:0034353)

Term ID:

34353

Name:

Appendicular spasticity

Synonym:

Definition:

A type of spasticity that affects one or more limbs (arms or legs).

Comments:

Reference:

HP:0034353

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034353	HP:0034353	Appendicular spasticity	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0034353	HP:0034353	Appendicular spasticity	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0034353	HP:0034353	Appendicular spasticity	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0034353	HP:0034353	Appendicular spasticity	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0034353	HP:0034353	Appendicular spasticity	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0034353	HP:0034353	Appendicular spasticity	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0034353	HP:0034353	Appendicular spasticity	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0034353	HP:0034353	Appendicular spasticity	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0034353	HP:0034353	Appendicular spasticity	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0034353	HP:0034353	Appendicular spasticity	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0034353	HP:0034353	Appendicular spasticity	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0034353	HP:0034353	Appendicular spasticity	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0034353	HP:0034353	Appendicular spasticity	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0034353	HP:0034353	Appendicular spasticity	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0034353	HP:0034353	Appendicular spasticity	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0034353	HP:0034353	Appendicular spasticity	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0034353	HP:0034353	Appendicular spasticity	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0034353	HP:0034353	Appendicular spasticity	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0034353	HP:0034353	Appendicular spasticity	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0034353	HP:0034353	Appendicular spasticity	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0034353	HP:0034353	Appendicular spasticity	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome		87
HP:0034353	HP:0034353	Appendicular spasticity	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0034353	HP:0034353	Appendicular spasticity	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0034353	HP:0034353	Appendicular spasticity	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0034353	HP:0034353	Appendicular spasticity	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0034353	HP:0034353	Appendicular spasticity	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0034353	HP:0034353	Appendicular spasticity	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0034353	HP:0034353	Appendicular spasticity	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis		114
HP:0034353	HP:0034353	Appendicular spasticity	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0034353	HP:0034353	Appendicular spasticity	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0034353	HP:0034353	Appendicular spasticity	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0034353	HP:0034353	Appendicular spasticity	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive		3
HP:0034353	HP:0034353	Appendicular spasticity	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome		13
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0034353	HP:0034353	Appendicular spasticity	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0034353	HP:0034353	Appendicular spasticity	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0034353	HP:0034353	Appendicular spasticity	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0034353	HP:0034353	Appendicular spasticity	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0034353	HP:0034353	Appendicular spasticity	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0034353	HP:0034353	Appendicular spasticity	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0034353	HP:0034353	Appendicular spasticity	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0034353	HP:0034353	Appendicular spasticity	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0034353	HP:0034353	Appendicular spasticity	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0034353	HP:0034353	Appendicular spasticity	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0034353	HP:0034353	Appendicular spasticity	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0034353	HP:0034353	Appendicular spasticity	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0034353	HP:0034353	Appendicular spasticity	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0034353	HP:0034353	Appendicular spasticity	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0034353	HP:0034353	Appendicular spasticity	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0034353	HP:0034353	Appendicular spasticity	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0034353	HP:0034353	Appendicular spasticity	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0034353	HP:0034353	Appendicular spasticity	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0034353	HP:0034353	Appendicular spasticity	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0034353	HP:0034353	Appendicular spasticity	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0034353	HP:0034353	Appendicular spasticity	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1		49
HP:0034353	HP:0034353	Appendicular spasticity	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0034353	HP:0034353	Appendicular spasticity	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0034353	HP:0034353	Appendicular spasticity	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0034353	HP:0034353	Appendicular spasticity	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0034353	HP:0034353	Appendicular spasticity	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0034353	HP:0034353	Appendicular spasticity	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0034353	HP:0034353	Appendicular spasticity	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0034353	HP:0034353	Appendicular spasticity	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0034353	HP:0034353	Appendicular spasticity	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0034353	HP:0034353	Appendicular spasticity	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0034353	HP:0034353	Appendicular spasticity	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0034353	HP:0034353	Appendicular spasticity	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0034353	HP:0034353	Appendicular spasticity	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0034353	HP:0034353	Appendicular spasticity	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0034353	HP:0034353	Appendicular spasticity	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0034353	HP:0034353	Appendicular spasticity	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0034353	HP:0034353	Appendicular spasticity	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0034353	HP:0034353	Appendicular spasticity	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0034353	HP:0034353	Appendicular spasticity	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0034353	HP:0034353	Appendicular spasticity	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0034353	HP:0034353	Appendicular spasticity	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0034353	HP:0034353	Appendicular spasticity	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0034353	HP:0034353	Appendicular spasticity	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0034353	HP:0034353	Appendicular spasticity	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0034353	HP:0034353	Appendicular spasticity	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0034353	HP:0034353	Appendicular spasticity	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0034353	HP:0034353	Appendicular spasticity	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0034353	HP:0034353	Appendicular spasticity	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0034353	HP:0034353	Appendicular spasticity	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0034353	HP:0034353	Appendicular spasticity	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0034353	HP:0034353	Appendicular spasticity	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0034353	HP:0034353	Appendicular spasticity	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0034353	HP:0034353	Appendicular spasticity	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0034353	HP:0034353	Appendicular spasticity	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0034353	HP:0034353	Appendicular spasticity	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0034353	HP:0034353	Appendicular spasticity	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration		16
HP:0034353	HP:0034353	Appendicular spasticity	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0034353	HP:0034353	Appendicular spasticity	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG		2
HP:0034353	HP:0034353	Appendicular spasticity	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq		2
HP:0034353	HP:0034353	Appendicular spasticity	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0034353	HP:0034353	Appendicular spasticity	0	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3
HP:0034353	HP:0034353	Appendicular spasticity	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0034353	HP:0034353	Appendicular spasticity	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0034353	HP:0034353	Appendicular spasticity	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0034353	HP:0034353	Appendicular spasticity	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0034353	HP:0034353	Appendicular spasticity	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0034353	HP:0034353	Appendicular spasticity	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9		2
HP:0034353	HP:0034353	Appendicular spasticity	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0034353	HP:0034353	Appendicular spasticity	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0034353	HP:0034353	Appendicular spasticity	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0034353	HP:0034353	Appendicular spasticity	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0034353	HP:0034353	Appendicular spasticity	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0034353	HP:0034353	Appendicular spasticity	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0034353	HP:0034353	Appendicular spasticity	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0034353	HP:0034353	Appendicular spasticity	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0034353	HP:0034353	Appendicular spasticity	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0034353	HP:0034353	Appendicular spasticity	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28		35
HP:0034353	HP:0034353	Appendicular spasticity	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0034353	HP:0034353	Appendicular spasticity	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0034353	HP:0034353	Appendicular spasticity	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0034353	HP:0034353	Appendicular spasticity	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0034353	HP:0034353	Appendicular spasticity	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0034353	HP:0034353	Appendicular spasticity	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0034353	HP:0034353	Appendicular spasticity	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0034353	HP:0034353	Appendicular spasticity	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0034353	HP:0034353	Appendicular spasticity	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0034353	HP:0034353	Appendicular spasticity	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0034353	HP:0034353	Appendicular spasticity	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0034353	HP:0034353	Appendicular spasticity	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0034353	HP:0034353	Appendicular spasticity	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0034353	HP:0034353	Appendicular spasticity	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0034353	HP:0034353	Appendicular spasticity	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0034353	HP:0034353	Appendicular spasticity	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0034353	HP:0034353	Appendicular spasticity	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0034353	HP:0034353	Appendicular spasticity	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0034353	HP:0034353	Appendicular spasticity	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0034353	HP:0034353	Appendicular spasticity	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0034353	HP:0034353	Appendicular spasticity	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0034353	HP:0034353	Appendicular spasticity	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0034353	HP:0034353	Appendicular spasticity	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0034353	HP:0034353	Appendicular spasticity	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0034353	HP:0034353	Appendicular spasticity	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0034353	HP:0034353	Appendicular spasticity	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0034353	HP:0034353	Appendicular spasticity	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0034353	HP:0034353	Appendicular spasticity	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62		2
HP:0034353	HP:0034353	Appendicular spasticity	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0034353	HP:0034353	Appendicular spasticity	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis		18
HP:0034353	HP:0034353	Appendicular spasticity	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0034353	HP:0034353	Appendicular spasticity	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0034353	HP:0034353	Appendicular spasticity	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0034353	HP:0034353	Appendicular spasticity	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0034353	HP:0034353	Appendicular spasticity	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0034353	HP:0034353	Appendicular spasticity	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0034353	HP:0034353	Appendicular spasticity	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0034353	HP:0034353	Appendicular spasticity	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0034353	HP:0034353	Appendicular spasticity	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0034353	HP:0034353	Appendicular spasticity	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0034353	HP:0034353	Appendicular spasticity	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0034353	HP:0034353	Appendicular spasticity	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0034353	HP:0034353	Appendicular spasticity	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0034353	HP:0034353	Appendicular spasticity	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0034353	HP:0034353	Appendicular spasticity	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0034353	HP:0034353	Appendicular spasticity	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0034353	HP:0034353	Appendicular spasticity	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0034353	HP:0034353	Appendicular spasticity	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0034353	HP:0034353	Appendicular spasticity	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0034353	HP:0034353	Appendicular spasticity	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0034353	HP:0034353	Appendicular spasticity	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0034353	HP:0034353	Appendicular spasticity	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0034353	HP:0034353	Appendicular spasticity	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0034353	HP:0034353	Appendicular spasticity	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0034353	HP:0034353	Appendicular spasticity	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0034353	HP:0034353	Appendicular spasticity	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0034353	HP:0034353	Appendicular spasticity	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0034353	HP:0034353	Appendicular spasticity	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0034353	HP:0034353	Appendicular spasticity	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0034353	HP:0034353	Appendicular spasticity	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0034353	HP:0034353	Appendicular spasticity	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0034353	HP:0034353	Appendicular spasticity	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0034353	HP:0034353	Appendicular spasticity	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0034353	HP:0034353	Appendicular spasticity	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0034353	HP:0034353	Appendicular spasticity	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0034353	HP:0034353	Appendicular spasticity	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0034353	HP:0034353	Appendicular spasticity	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44		37
HP:0034353	HP:0034353	Appendicular spasticity	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0034353	HP:0034353	Appendicular spasticity	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0034353	HP:0034353	Appendicular spasticity	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0034353	HP:0034353	Appendicular spasticity	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0034353	HP:0034353	Appendicular spasticity	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0034353	HP:0034353	Appendicular spasticity	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0034353	HP:0034353	Appendicular spasticity	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0034353	HP:0034353	Appendicular spasticity	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0034353	HP:0034353	Appendicular spasticity	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0034353	HP:0034353	Appendicular spasticity	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0034353	HP:0034353	Appendicular spasticity	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0034353	HP:0034353	Appendicular spasticity	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0034353	HP:0034353	Appendicular spasticity	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0034353	HP:0034353	Appendicular spasticity	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0034353	HP:0034353	Appendicular spasticity	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0034353	HP:0034353	Appendicular spasticity	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0034353	HP:0034353	Appendicular spasticity	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0034353	HP:0034353	Appendicular spasticity	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0034353	HP:0034353	Appendicular spasticity	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0034353	HP:0034353	Appendicular spasticity	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0034353	HP:0034353	Appendicular spasticity	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0034353	HP:0034353	Appendicular spasticity	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0034353	HP:0034353	Appendicular spasticity	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0034353	HP:0034353	Appendicular spasticity	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0034353	HP:0034353	Appendicular spasticity	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0034353	HP:0034353	Appendicular spasticity	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0034353	HP:0034353	Appendicular spasticity	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0034353	HP:0034353	Appendicular spasticity	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0034353	HP:0034353	Appendicular spasticity	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0034353	HP:0034353	Appendicular spasticity	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0034353	HP:0034353	Appendicular spasticity	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0034353	HP:0034353	Appendicular spasticity	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0034353	HP:0034353	Appendicular spasticity	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0034353	HP:0034353	Appendicular spasticity	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0034353	HP:0034353	Appendicular spasticity	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0034353	HP:0034353	Appendicular spasticity	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0034353	HP:0034353	Appendicular spasticity	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0034353	HP:0034353	Appendicular spasticity	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0034353	HP:0034353	Appendicular spasticity	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0034353	HP:0034353	Appendicular spasticity	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0034353	HP:0034353	Appendicular spasticity	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0034353	HP:0034353	Appendicular spasticity	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0034353	HP:0034353	Appendicular spasticity	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7		528
HP:0034353	HP:0034353	Appendicular spasticity	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0034353	HP:0034353	Appendicular spasticity	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0034353	HP:0034353	Appendicular spasticity	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0034353	HP:0034353	Appendicular spasticity	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0034353	HP:0034353	Appendicular spasticity	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0034353	HP:0034353	Appendicular spasticity	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3		15
HP:0034353	HP:0034353	Appendicular spasticity	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0034353	HP:0034353	Appendicular spasticity	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0034353	HP:0034353	Appendicular spasticity	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0034353	HP:0034353	Appendicular spasticity	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0034353	HP:0034353	Appendicular spasticity	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0034353	HP:0034353	Appendicular spasticity	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0034353	HP:0034353	Appendicular spasticity	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0034353	HP:0034353	Appendicular spasticity	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0034353	HP:0034353	Appendicular spasticity	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome		134
HP:0034353	HP:0034353	Appendicular spasticity	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0034353	HP:0034353	Appendicular spasticity	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1		134
HP:0034353	HP:0034353	Appendicular spasticity	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0034353	HP:0034353	Appendicular spasticity	0	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria		34
HP:0034353	HP:0034353	Appendicular spasticity	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0034353	HP:0034353	Appendicular spasticity	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures		31
HP:0034353	HP:0034353	Appendicular spasticity	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0034353	HP:0034353	Appendicular spasticity	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0034353	HP:0034353	Appendicular spasticity	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0034353	HP:0034353	Appendicular spasticity	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0034353	HP:0034353	Appendicular spasticity	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0034353	HP:0034353	Appendicular spasticity	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0034353	HP:0034353	Appendicular spasticity	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0034353	HP:0034353	Appendicular spasticity	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0034353	HP:0034353	Appendicular spasticity	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0034353	HP:0034353	Appendicular spasticity	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0034353	HP:0034353	Appendicular spasticity	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0034353	HP:0034353	Appendicular spasticity	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0034353	HP:0034353	Appendicular spasticity	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0034353	HP:0034353	Appendicular spasticity	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0034353	HP:0034353	Appendicular spasticity	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0034353	HP:0034353	Appendicular spasticity	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome		950
HP:0034353	HP:0034353	Appendicular spasticity	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0034353	HP:0034353	Appendicular spasticity	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0034353	HP:0034353	Appendicular spasticity	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0034353	HP:0034353	Appendicular spasticity	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0034353	HP:0034353	Appendicular spasticity	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0034353	HP:0034353	Appendicular spasticity	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0034353	HP:0034353	Appendicular spasticity	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0034353	HP:0034353	Appendicular spasticity	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0034353	HP:0034353	Appendicular spasticity	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0034353	HP:0034353	Appendicular spasticity	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0034353	HP:0034353	Appendicular spasticity	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0034353	HP:0034353	Appendicular spasticity	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0034353	HP:0034353	Appendicular spasticity	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0034353	HP:0034353	Appendicular spasticity	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0034353	HP:0034353	Appendicular spasticity	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0034353	HP:0034353	Appendicular spasticity	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0034353	HP:0034353	Appendicular spasticity	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0034353	HP:0034353	Appendicular spasticity	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0034353	HP:0034353	Appendicular spasticity	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0034353	HP:0034353	Appendicular spasticity	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0034353	HP:0034353	Appendicular spasticity	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0034353	HP:0034353	Appendicular spasticity	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0034353	HP:0034353	Appendicular spasticity	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0034353	HP:0034353	Appendicular spasticity	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0034353	Appendicular spasticity	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0034353	HP:0034353	Appendicular spasticity	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0034353	HP:0034353	Appendicular spasticity	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0034353	HP:0034353	Appendicular spasticity	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0034353	HP:0034353	Appendicular spasticity	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0034353	HP:0034353	Appendicular spasticity	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0034353	HP:0034353	Appendicular spasticity	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45		15
HP:0034353	HP:0034353	Appendicular spasticity	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive		15
HP:0034353	HP:0034353	Appendicular spasticity	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0034353	HP:0034353	Appendicular spasticity	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0034353	HP:0034353	Appendicular spasticity	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0034353	HP:0034353	Appendicular spasticity	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0034353	HP:0034353	Appendicular spasticity	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0034353	HP:0034353	Appendicular spasticity	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3		163
HP:0034353	HP:0034353	Appendicular spasticity	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0034353	HP:0034353	Appendicular spasticity	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0034353	HP:0034353	Appendicular spasticity	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0034353	HP:0034353	Appendicular spasticity	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0034353	HP:0034353	Appendicular spasticity	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0034353	HP:0034353	Appendicular spasticity	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0034353	HP:0034353	Appendicular spasticity	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0034353	HP:0034353	Appendicular spasticity	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0034353	HP:0034353	Appendicular spasticity	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0034353	HP:0034353	Appendicular spasticity	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0034353	HP:0034353	Appendicular spasticity	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0034353	HP:0034353	Appendicular spasticity	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0034353	HP:0034353	Appendicular spasticity	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0034353	HP:0034353	Appendicular spasticity	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0034353	HP:0034353	Appendicular spasticity	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0034353	HP:0034353	Appendicular spasticity	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0034353	HP:0034353	Appendicular spasticity	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0034353	HP:0034353	Appendicular spasticity	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0034353	HP:0034353	Appendicular spasticity	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0034353	HP:0034353	Appendicular spasticity	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0034353	HP:0034353	Appendicular spasticity	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0034353	HP:0034353	Appendicular spasticity	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0034353	HP:0034353	Appendicular spasticity	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0034353	HP:0034353	Appendicular spasticity	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0034353	HP:0034353	Appendicular spasticity	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0034353	HP:0034353	Appendicular spasticity	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39		103
HP:0034353	HP:0034353	Appendicular spasticity	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0034353	HP:0034353	Appendicular spasticity	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0034353	HP:0034353	Appendicular spasticity	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0034353	HP:0034353	Appendicular spasticity	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0034353	HP:0034353	Appendicular spasticity	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0034353	HP:0034353	Appendicular spasticity	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0034353	HP:0034353	Appendicular spasticity	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0034353	HP:0034353	Appendicular spasticity	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type		28
HP:0034353	HP:0034353	Appendicular spasticity	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0034353	HP:0034353	Appendicular spasticity	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease		1
HP:0034353	HP:0034353	Appendicular spasticity	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0034353	HP:0034353	Appendicular spasticity	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0034353	HP:0034353	Appendicular spasticity	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0034353	HP:0034353	Appendicular spasticity	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia		94
HP:0034353	HP:0034353	Appendicular spasticity	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0034353	HP:0034353	Appendicular spasticity	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0034353	HP:0034353	Appendicular spasticity	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0034353	HP:0034353	Appendicular spasticity	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0034353	HP:0034353	Appendicular spasticity	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0034353	HP:0034353	Appendicular spasticity	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0034353	HP:0034353	Appendicular spasticity	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0034353	HP:0034353	Appendicular spasticity	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0034353	HP:0034353	Appendicular spasticity	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0034353	HP:0034353	Appendicular spasticity	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0034353	HP:0034353	Appendicular spasticity	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0034353	HP:0034353	Appendicular spasticity	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0034353	HP:0034353	Appendicular spasticity	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0034353	HP:0034353	Appendicular spasticity	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0034353	HP:0034353	Appendicular spasticity	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy		57
HP:0034353	HP:0034353	Appendicular spasticity	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0034353	HP:0034353	Appendicular spasticity	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0034353	HP:0034353	Appendicular spasticity	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0034353	HP:0034353	Appendicular spasticity	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0034353	HP:0034353	Appendicular spasticity	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0034353	HP:0034353	Appendicular spasticity	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0034353	HP:0034353	Appendicular spasticity	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0034353	HP:0034353	Appendicular spasticity	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0034353	HP:0034353	Appendicular spasticity	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0034353	HP:0034353	Appendicular spasticity	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0034353	HP:0034353	Appendicular spasticity	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0034353	HP:0034353	Appendicular spasticity	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0034353	HP:0034353	Appendicular spasticity	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0034353	HP:0034353	Appendicular spasticity	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0034353	HP:0034353	Appendicular spasticity	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0034353	HP:0034353	Appendicular spasticity	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0034353	HP:0034353	Appendicular spasticity	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0034353	HP:0034353	Appendicular spasticity	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0034353	HP:0034353	Appendicular spasticity	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0034353	HP:0034353	Appendicular spasticity	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0034353	HP:0034353	Appendicular spasticity	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11		427
HP:0034353	HP:0034353	Appendicular spasticity	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0034353	HP:0034353	Appendicular spasticity	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0034353	HP:0034353	Appendicular spasticity	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0034353	HP:0034353	Appendicular spasticity	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0034353	HP:0034353	Appendicular spasticity	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0034353	HP:0034353	Appendicular spasticity	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0034353	HP:0034353	Appendicular spasticity	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0034353	HP:0034353	Appendicular spasticity	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0034353	HP:0034353	Appendicular spasticity	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0034353	HP:0034353	Appendicular spasticity	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0034353	HP:0034353	Appendicular spasticity	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D		66
HP:0034353	HP:0034353	Appendicular spasticity	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4		162
HP:0034353	HP:0034353	Appendicular spasticity	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0034353	HP:0034353	Appendicular spasticity	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0034353	HP:0034353	Appendicular spasticity	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0034353	HP:0034353	Appendicular spasticity	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		110
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity		255
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia		255
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0034353	HP:0034353	Appendicular spasticity	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0034353	HP:0034353	Appendicular spasticity	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0034353	HP:0034353	Appendicular spasticity	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0034353	HP:0034353	Appendicular spasticity	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0034353	HP:0034353	Appendicular spasticity	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0034353	HP:0034353	Appendicular spasticity	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0034353	HP:0034353	Appendicular spasticity	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0034353	HP:0034353	Appendicular spasticity	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0034353	HP:0034353	Appendicular spasticity	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0034353	HP:0034353	Appendicular spasticity	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0034353	HP:0034353	Appendicular spasticity	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0034353	HP:0034353	Appendicular spasticity	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0034353	HP:0034353	Appendicular spasticity	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0034353	HP:0034353	Appendicular spasticity	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0034353	HP:0034353	Appendicular spasticity	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0034353	HP:0034353	Appendicular spasticity	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0034353	HP:0034353	Appendicular spasticity	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5		416
HP:0034353	HP:0034353	Appendicular spasticity	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0034353	HP:0034353	Appendicular spasticity	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0034353	HP:0034353	Appendicular spasticity	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0034353	HP:0034353	Appendicular spasticity	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0034353	HP:0034353	Appendicular spasticity	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0034353	HP:0034353	Appendicular spasticity	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0034353	HP:0034353	Appendicular spasticity	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0034353	HP:0034353	Appendicular spasticity	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0034353	HP:0034353	Appendicular spasticity	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0034353	HP:0034353	Appendicular spasticity	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53		9
HP:0034353	HP:0034353	Appendicular spasticity	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0034353	HP:0034353	Appendicular spasticity	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0034353	HP:0034353	Appendicular spasticity	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0034353	HP:0034353	Appendicular spasticity	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0034353	HP:0034353	Appendicular spasticity	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0034353	HP:0034353	Appendicular spasticity	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0034353	HP:0034353	Appendicular spasticity	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0034353	HP:0034353	Appendicular spasticity	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0034353	HP:0034353	Appendicular spasticity	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0034353	HP:0034353	Appendicular spasticity	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0034353	HP:0034353	Appendicular spasticity	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0034353	HP:0034353	Appendicular spasticity	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0034353	HP:0034353	Appendicular spasticity	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0034353	HP:0034353	Appendicular spasticity	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0034353	HP:0034353	Appendicular spasticity	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0034353	HP:0034353	Appendicular spasticity	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0034353	HP:0034353	Appendicular spasticity	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0034353	HP:0034353	Appendicular spasticity	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0034353	HP:0034353	Appendicular spasticity	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0034353	HP:0034353	Appendicular spasticity	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0034353	HP:0034353	Appendicular spasticity	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0034353	HP:0034353	Appendicular spasticity	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0034353	HP:0034353	Appendicular spasticity	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0034353	HP:0034353	Appendicular spasticity	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0034353	HP:0034353	Appendicular spasticity	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0034353	HP:0034353	Appendicular spasticity	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0034353	HP:0034353	Appendicular spasticity	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0034353	HP:0034353	Appendicular spasticity	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4		14
HP:0034353	HP:0034353	Appendicular spasticity	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0034353	HP:0034353	Appendicular spasticity	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0034353	HP:0034353	Appendicular spasticity	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS		1
HP:0034353	HP:0034353	Appendicular spasticity	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0034353	HP:0034353	Appendicular spasticity	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0034353	HP:0034353	Appendicular spasticity	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59		7
HP:0034353	HP:0034353	Appendicular spasticity	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0034353	HP:0034353	Appendicular spasticity	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0034353	HP:0034353	Appendicular spasticity	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0034353	HP:0034353	Appendicular spasticity	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0034353	HP:0034353	Appendicular spasticity	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0034353	HP:0034353	Appendicular spasticity	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0034353	HP:0034353	Appendicular spasticity	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0034353	HP:0034353	Appendicular spasticity	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0034353	HP:0034353	Appendicular spasticity	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:0034353	HP:0034353	Appendicular spasticity	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0034353	HP:0034353	Appendicular spasticity	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0034353	HP:0034353	Appendicular spasticity	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0034353	HP:0034353	Appendicular spasticity	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0034353	HP:0034353	Appendicular spasticity	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0034353	HP:0034353	Appendicular spasticity	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0034353	HP:0034353	Appendicular spasticity	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60		1
HP:0034353	HP:0034353	Appendicular spasticity	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0034353	HP:0034353	Appendicular spasticity	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0034353	HP:0034353	Appendicular spasticity	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0034353	HP:0034353	Appendicular spasticity	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0034353	HP:0034353	Appendicular spasticity	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0034353	HP:0034353	Appendicular spasticity	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0034353	HP:0034353	Appendicular spasticity	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0034353	HP:0034353	Appendicular spasticity	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0034353	HP:0034183	Spastic triplegia	1	CL E G H
HP:0034353	HP:0031866	Clasp-knife sign	1	CL E G H
HP:0034353	HP:0001264	Spastic diplegia	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0034353	HP:0001264	Spastic diplegia	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0034353	HP:0001285	Spastic tetraparesis	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0034353	HP:0001264	Spastic diplegia	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0034353	HP:0002061	Lower limb spasticity	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0034353	HP:0002061	Lower limb spasticity	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0034353	HP:0002061	Lower limb spasticity	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0034353	HP:0001285	Spastic tetraparesis	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0034353	HP:0002061	Lower limb spasticity	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0034353	HP:0001264	Spastic diplegia	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0034353	HP:0006986	Upper limb spasticity	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0034353	HP:0002061	Lower limb spasticity	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0034353	HP:0002061	Lower limb spasticity	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0034353	HP:0002510	Spastic tetraplegia	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0034353	HP:0001285	Spastic tetraparesis	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0034353	HP:0002510	Spastic tetraplegia	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.	3
HP:0034353	HP:0001264	Spastic diplegia	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.	3
HP:0034353	HP:0002510	Spastic tetraplegia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0034353	HP:0002061	Lower limb spasticity	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0034353	HP:0001285	Spastic tetraparesis	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0034353	HP:0002061	Lower limb spasticity	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0034353	HP:0002061	Lower limb spasticity	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0034353	HP:0002061	Lower limb spasticity	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0034353	HP:0002061	Lower limb spasticity	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0034353	HP:0002061	Lower limb spasticity	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0034353	HP:0002061	Lower limb spasticity	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0034353	HP:0001264	Spastic diplegia	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent	87
HP:0034353	HP:0002061	Lower limb spasticity	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0034353	HP:0001285	Spastic tetraparesis	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040283 - Occasional	37
HP:0034353	HP:0002061	Lower limb spasticity	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0034353	HP:0006986	Upper limb spasticity	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0034353	HP:0001264	Spastic diplegia	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0034353	HP:0001285	Spastic tetraparesis	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0034353	HP:0002061	Lower limb spasticity	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0034353	HP:0002510	Spastic tetraplegia	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0034353	HP:0002061	Lower limb spasticity	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0034353	HP:0002061	Lower limb spasticity	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	114
HP:0034353	HP:0006986	Upper limb spasticity	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	114
HP:0034353	HP:0001264	Spastic diplegia	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0034353	HP:0001285	Spastic tetraparesis	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0034353	HP:0001285	Spastic tetraparesis	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0034353	HP:0002061	Lower limb spasticity	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0034353	HP:0002510	Spastic tetraplegia	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0034353	HP:0002061	Lower limb spasticity	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0034353	HP:0002510	Spastic tetraplegia	1	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0034353	HP:0001264	Spastic diplegia	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent	13
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0034353	HP:0002510	Spastic tetraplegia	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0034353	HP:0002510	Spastic tetraplegia	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0034353	HP:0002061	Lower limb spasticity	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0034353	HP:0002061	Lower limb spasticity	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0034353	HP:0002061	Lower limb spasticity	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0034353	HP:0002510	Spastic tetraplegia	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0034353	HP:0001285	Spastic tetraparesis	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0034353	HP:0002061	Lower limb spasticity	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0034353	HP:0002061	Lower limb spasticity	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0034353	HP:0002510	Spastic tetraplegia	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0034353	HP:0002061	Lower limb spasticity	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0034353	HP:0002510	Spastic tetraplegia	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0034353	HP:0001285	Spastic tetraparesis	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0034353	HP:0002061	Lower limb spasticity	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent	166
HP:0034353	HP:0002061	Lower limb spasticity	1	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.	166
HP:0034353	HP:0002510	Spastic tetraplegia	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0034353	HP:0002061	Lower limb spasticity	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent	71
HP:0034353	HP:0002061	Lower limb spasticity	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0034353	HP:0002061	Lower limb spasticity	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0034353	HP:0002061	Lower limb spasticity	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0034353	HP:0002061	Lower limb spasticity	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0034353	HP:0002510	Spastic tetraplegia	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0034353	HP:0002061	Lower limb spasticity	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0034353	HP:0001285	Spastic tetraparesis	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0034353	HP:0002061	Lower limb spasticity	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0034353	HP:0002061	Lower limb spasticity	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0034353	HP:0002510	Spastic tetraplegia	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0034353	HP:0001285	Spastic tetraparesis	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0034353	HP:0002061	Lower limb spasticity	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0034353	HP:0002061	Lower limb spasticity	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0034353	HP:0001285	Spastic tetraparesis	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional	49
HP:0034353	HP:0002510	Spastic tetraplegia	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0034353	HP:0002061	Lower limb spasticity	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent	25
HP:0034353	HP:0002061	Lower limb spasticity	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0034353	HP:0002510	Spastic tetraplegia	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0034353	HP:0001264	Spastic diplegia	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0034353	HP:0002061	Lower limb spasticity	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0034353	HP:0002061	Lower limb spasticity	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0034353	HP:0002061	Lower limb spasticity	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0034353	HP:0002061	Lower limb spasticity	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0034353	HP:0002061	Lower limb spasticity	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0034353	HP:0002061	Lower limb spasticity	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0034353	HP:0002061	Lower limb spasticity	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0034353	HP:0002061	Lower limb spasticity	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0034353	HP:0002510	Spastic tetraplegia	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0034353	HP:0002061	Lower limb spasticity	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0034353	HP:0002510	Spastic tetraplegia	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0034353	HP:0002061	Lower limb spasticity	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0034353	HP:0002061	Lower limb spasticity	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040281 - Very frequent	4
HP:0034353	HP:0002061	Lower limb spasticity	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0034353	HP:0002061	Lower limb spasticity	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0034353	HP:0002061	Lower limb spasticity	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0034353	HP:0002061	Lower limb spasticity	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0034353	HP:0002061	Lower limb spasticity	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0034353	HP:0002510	Spastic tetraplegia	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0034353	HP:0006986	Upper limb spasticity	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040284 - Very rare	45
HP:0034353	HP:0002061	Lower limb spasticity	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0034353	HP:0002061	Lower limb spasticity	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0034353	HP:0002510	Spastic tetraplegia	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0034353	HP:0002510	Spastic tetraplegia	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0034353	HP:0002510	Spastic tetraplegia	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0034353	HP:0002061	Lower limb spasticity	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0034353	HP:0002510	Spastic tetraplegia	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0034353	HP:0002510	Spastic tetraplegia	1	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0034353	HP:0002061	Lower limb spasticity	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0034353	HP:0001285	Spastic tetraparesis	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0034353	HP:0001285	Spastic tetraparesis	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040283 - Occasional
HP:0034353	HP:0002061	Lower limb spasticity	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration		16
HP:0034353	HP:0002061	Lower limb spasticity	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0034353	HP:0002510	Spastic tetraplegia	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0034353	HP:0002510	Spastic tetraplegia	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0034353	HP:0002510	Spastic tetraplegia	1	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0034353	HP:0002510	Spastic tetraplegia	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0034353	HP:0002510	Spastic tetraplegia	1	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3	.
HP:0034353	HP:0002061	Lower limb spasticity	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0034353	HP:0002061	Lower limb spasticity	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0034353	HP:0002061	Lower limb spasticity	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0034353	HP:0002061	Lower limb spasticity	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0034353	HP:0002510	Spastic tetraplegia	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0034353	HP:0002510	Spastic tetraplegia	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0034353	HP:0001264	Spastic diplegia	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0034353	HP:0002510	Spastic tetraplegia	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0034353	HP:0002510	Spastic tetraplegia	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0034353	HP:0002061	Lower limb spasticity	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0034353	HP:0002061	Lower limb spasticity	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0034353	HP:0002061	Lower limb spasticity	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0034353	HP:0002061	Lower limb spasticity	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0034353	HP:0006986	Upper limb spasticity	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare	57
HP:0034353	HP:0002061	Lower limb spasticity	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0034353	HP:0006986	Upper limb spasticity	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0034353	HP:0002061	Lower limb spasticity	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0034353	HP:0001264	Spastic diplegia	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0034353	HP:0002061	Lower limb spasticity	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0034353	HP:0002061	Lower limb spasticity	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0034353	HP:0002061	Lower limb spasticity	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0034353	HP:0006986	Upper limb spasticity	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0034353	HP:0002061	Lower limb spasticity	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0034353	HP:0002510	Spastic tetraplegia	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0034353	HP:0002061	Lower limb spasticity	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0034353	HP:0002061	Lower limb spasticity	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0034353	HP:0002510	Spastic tetraplegia	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0034353	HP:0002061	Lower limb spasticity	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0034353	HP:0002061	Lower limb spasticity	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0034353	HP:0002510	Spastic tetraplegia	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0034353	HP:0001285	Spastic tetraparesis	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0034353	HP:0002510	Spastic tetraplegia	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0034353	HP:0001285	Spastic tetraparesis	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0034353	HP:0002061	Lower limb spasticity	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0034353	HP:0002061	Lower limb spasticity	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0034353	HP:0002061	Lower limb spasticity	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0034353	HP:0001285	Spastic tetraparesis	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0034353	HP:0002061	Lower limb spasticity	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0034353	HP:0002510	Spastic tetraplegia	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0034353	HP:0001264	Spastic diplegia	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0034353	HP:0002061	Lower limb spasticity	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0034353	HP:0002061	Lower limb spasticity	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0034353	HP:0002061	Lower limb spasticity	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0034353	HP:0002061	Lower limb spasticity	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0034353	HP:0002061	Lower limb spasticity	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0034353	HP:0002061	Lower limb spasticity	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0034353	HP:0002061	Lower limb spasticity	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0034353	HP:0002061	Lower limb spasticity	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040281 - Very frequent	2
HP:0034353	HP:0002061	Lower limb spasticity	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.	2
HP:0034353	HP:0001285	Spastic tetraparesis	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0034353	HP:0002061	Lower limb spasticity	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0034353	HP:0006986	Upper limb spasticity	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0034353	HP:0002510	Spastic tetraplegia	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0034353	HP:0001285	Spastic tetraparesis	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0034353	HP:0001285	Spastic tetraparesis	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0034353	HP:0002061	Lower limb spasticity	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0034353	HP:0002061	Lower limb spasticity	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0034353	HP:0002061	Lower limb spasticity	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0034353	HP:0001285	Spastic tetraparesis	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0034353	HP:0002061	Lower limb spasticity	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0034353	HP:0001285	Spastic tetraparesis	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent	7
HP:0034353	HP:0001285	Spastic tetraparesis	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0034353	HP:0002061	Lower limb spasticity	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0034353	HP:0002061	Lower limb spasticity	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0034353	HP:0001285	Spastic tetraparesis	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0034353	HP:0002061	Lower limb spasticity	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0034353	HP:0001264	Spastic diplegia	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	HP:0040283 - Occasional	493
HP:0034353	HP:0002061	Lower limb spasticity	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0034353	HP:0002061	Lower limb spasticity	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0034353	HP:0002510	Spastic tetraplegia	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0034353	HP:0002510	Spastic tetraplegia	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040282 - Frequent	43
HP:0034353	HP:0006986	Upper limb spasticity	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0034353	HP:0002061	Lower limb spasticity	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0034353	HP:0001264	Spastic diplegia	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0034353	HP:0002061	Lower limb spasticity	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0034353	HP:0002061	Lower limb spasticity	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0034353	HP:0001264	Spastic diplegia	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	160
HP:0034353	HP:0002061	Lower limb spasticity	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0034353	HP:0001264	Spastic diplegia	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0034353	HP:0002061	Lower limb spasticity	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0034353	HP:0002061	Lower limb spasticity	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0034353	HP:0002061	Lower limb spasticity	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0034353	HP:0002061	Lower limb spasticity	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0034353	HP:0002061	Lower limb spasticity	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0034353	HP:0002061	Lower limb spasticity	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent	30
HP:0034353	HP:0006986	Upper limb spasticity	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0034353	HP:0002061	Lower limb spasticity	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040281 - Very frequent	30
HP:0034353	HP:0006986	Upper limb spasticity	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0034353	HP:0002061	Lower limb spasticity	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0034353	HP:0002061	Lower limb spasticity	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0034353	HP:0001264	Spastic diplegia	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0034353	HP:0002061	Lower limb spasticity	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0034353	HP:0002061	Lower limb spasticity	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0034353	HP:0002061	Lower limb spasticity	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0034353	HP:0002061	Lower limb spasticity	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0034353	HP:0002061	Lower limb spasticity	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0034353	HP:0002061	Lower limb spasticity	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0034353	HP:0006986	Upper limb spasticity	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0034353	HP:0002510	Spastic tetraplegia	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0034353	HP:0001264	Spastic diplegia	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0034353	HP:0001264	Spastic diplegia	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0034353	HP:0002510	Spastic tetraplegia	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0034353	HP:0001285	Spastic tetraparesis	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0034353	HP:0002510	Spastic tetraplegia	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0034353	HP:0002061	Lower limb spasticity	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0034353	HP:0002061	Lower limb spasticity	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0034353	HP:0002510	Spastic tetraplegia	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0034353	HP:0002510	Spastic tetraplegia	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent	108
HP:0034353	HP:0001285	Spastic tetraparesis	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0034353	HP:0002510	Spastic tetraplegia	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0034353	HP:0001285	Spastic tetraparesis	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0034353	HP:0002510	Spastic tetraplegia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0034353	HP:0002061	Lower limb spasticity	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0034353	HP:0001264	Spastic diplegia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0034353	HP:0002061	Lower limb spasticity	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0034353	HP:0002061	Lower limb spasticity	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0034353	HP:0002061	Lower limb spasticity	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0034353	HP:0006986	Upper limb spasticity	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0034353	HP:0011099	Spastic hemiparesis	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare	35
HP:0034353	HP:0002061	Lower limb spasticity	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0034353	HP:0002061	Lower limb spasticity	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0034353	HP:0001285	Spastic tetraparesis	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0034353	HP:0001264	Spastic diplegia	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0034353	HP:0002510	Spastic tetraplegia	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0034353	HP:0001264	Spastic diplegia	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional	98
HP:0034353	HP:0002061	Lower limb spasticity	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0034353	HP:0002061	Lower limb spasticity	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0034353	HP:0001264	Spastic diplegia	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0034353	HP:0002061	Lower limb spasticity	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0034353	HP:0002510	Spastic tetraplegia	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0034353	HP:0002061	Lower limb spasticity	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0034353	HP:0002061	Lower limb spasticity	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0034353	HP:0002061	Lower limb spasticity	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0034353	HP:0002061	Lower limb spasticity	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0034353	HP:0002510	Spastic tetraplegia	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0034353	HP:0001285	Spastic tetraparesis	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0034353	HP:0002061	Lower limb spasticity	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0034353	HP:0002061	Lower limb spasticity	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	HP:0040283 - Occasional	7
HP:0034353	HP:0002061	Lower limb spasticity	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0034353	HP:0002510	Spastic tetraplegia	1	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0034353	HP:0002510	Spastic tetraplegia	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0034353	HP:0002510	Spastic tetraplegia	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0034353	HP:0001285	Spastic tetraparesis	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0034353	HP:0001285	Spastic tetraparesis	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0034353	HP:0001285	Spastic tetraparesis	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.	528
HP:0034353	HP:0002061	Lower limb spasticity	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0034353	HP:0002061	Lower limb spasticity	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0034353	HP:0002061	Lower limb spasticity	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0034353	HP:0002061	Lower limb spasticity	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0034353	HP:0002061	Lower limb spasticity	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0034353	HP:0002510	Spastic tetraplegia	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.	15
HP:0034353	HP:0002061	Lower limb spasticity	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040280 - Obligate	93
HP:0034353	HP:0006986	Upper limb spasticity	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare	93
HP:0034353	HP:0002061	Lower limb spasticity	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0034353	HP:0002510	Spastic tetraplegia	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0034353	HP:0002061	Lower limb spasticity	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0034353	HP:0002061	Lower limb spasticity	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0034353	HP:0002061	Lower limb spasticity	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0034353	HP:0002061	Lower limb spasticity	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0034353	HP:0002061	Lower limb spasticity	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0034353	HP:0002061	Lower limb spasticity	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0034353	HP:0002061	Lower limb spasticity	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0034353	HP:0002061	Lower limb spasticity	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1		134
HP:0034353	HP:0001285	Spastic tetraparesis	1	L2HGDH CL E G H	79944	20499	ORPHA:79314	L-2-hydroxyglutaric aciduria	HP:0040282 - Frequent	34
HP:0034353	HP:0001285	Spastic tetraparesis	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0034353	HP:0002061	Lower limb spasticity	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0034353	HP:0002510	Spastic tetraplegia	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.	31
HP:0034353	HP:0002061	Lower limb spasticity	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0034353	HP:0001285	Spastic tetraparesis	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0034353	HP:0001285	Spastic tetraparesis	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0034353	HP:0001285	Spastic tetraparesis	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0034353	HP:0001285	Spastic tetraparesis	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0034353	HP:0002510	Spastic tetraplegia	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0034353	HP:0002061	Lower limb spasticity	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0034353	HP:0001285	Spastic tetraparesis	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0034353	HP:0002061	Lower limb spasticity	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0034353	HP:0002061	Lower limb spasticity	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0034353	HP:0002061	Lower limb spasticity	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0034353	HP:0002061	Lower limb spasticity	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0034353	HP:0002061	Lower limb spasticity	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0034353	HP:0002510	Spastic tetraplegia	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0034353	HP:0002061	Lower limb spasticity	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0034353	HP:0002061	Lower limb spasticity	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0034353	HP:0002510	Spastic tetraplegia	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0034353	HP:0002061	Lower limb spasticity	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950
HP:0034353	HP:0002061	Lower limb spasticity	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0034353	HP:0001285	Spastic tetraparesis	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0034353	HP:0002061	Lower limb spasticity	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0034353	HP:0002510	Spastic tetraplegia	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0034353	HP:0001285	Spastic tetraparesis	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0034353	HP:0002510	Spastic tetraplegia	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0034353	HP:0002510	Spastic tetraplegia	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0034353	HP:0002061	Lower limb spasticity	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0034353	HP:0001285	Spastic tetraparesis	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0034353	HP:0002510	Spastic tetraplegia	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0034353	HP:0002061	Lower limb spasticity	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0034353	HP:0002510	Spastic tetraplegia	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0034353	HP:0002061	Lower limb spasticity	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040281 - Very frequent	183
HP:0034353	HP:0002061	Lower limb spasticity	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0034353	HP:0002061	Lower limb spasticity	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0034353	HP:0002061	Lower limb spasticity	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0034353	HP:0002061	Lower limb spasticity	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0034353	HP:0002061	Lower limb spasticity	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0034353	HP:0001264	Spastic diplegia	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0034353	HP:0002510	Spastic tetraplegia	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0034353	HP:0002510	Spastic tetraplegia	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0034353	HP:0002510	Spastic tetraplegia	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0034353	HP:0001264	Spastic diplegia	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0034353	HP:0002510	Spastic tetraplegia	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0034353	HP:0001264	Spastic diplegia	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0034353	HP:0002510	Spastic tetraplegia	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0034353	HP:0002510	Spastic tetraplegia	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0034353	HP:0002061	Lower limb spasticity	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0002061	Lower limb spasticity	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0034353	HP:0002061	Lower limb spasticity	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0034353	HP:0001285	Spastic tetraparesis	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0034353	HP:0002061	Lower limb spasticity	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0034353	HP:0002061	Lower limb spasticity	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0034353	HP:0002061	Lower limb spasticity	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0034353	HP:0002061	Lower limb spasticity	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0034353	HP:0001264	Spastic diplegia	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0034353	HP:0001285	Spastic tetraparesis	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0034353	HP:0002061	Lower limb spasticity	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0034353	HP:0002061	Lower limb spasticity	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0034353	HP:0002061	Lower limb spasticity	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0034353	HP:0002061	Lower limb spasticity	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3		163
HP:0034353	HP:0002510	Spastic tetraplegia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0034353	HP:0002510	Spastic tetraplegia	1	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:0034353	HP:0002510	Spastic tetraplegia	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0034353	HP:0001285	Spastic tetraparesis	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0034353	HP:0002061	Lower limb spasticity	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0034353	HP:0002061	Lower limb spasticity	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0034353	HP:0002510	Spastic tetraplegia	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0034353	HP:0002061	Lower limb spasticity	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0034353	HP:0001264	Spastic diplegia	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040282 - Frequent	98
HP:0034353	HP:0002510	Spastic tetraplegia	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0034353	HP:0002061	Lower limb spasticity	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0034353	HP:0002061	Lower limb spasticity	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0034353	HP:0002510	Spastic tetraplegia	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0034353	HP:0002061	Lower limb spasticity	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0034353	HP:0002061	Lower limb spasticity	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0034353	HP:0002061	Lower limb spasticity	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0034353	HP:0001285	Spastic tetraparesis	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0034353	HP:0002510	Spastic tetraplegia	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0034353	HP:0002510	Spastic tetraplegia	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0034353	HP:0002061	Lower limb spasticity	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0034353	HP:0002510	Spastic tetraplegia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0034353	HP:0002061	Lower limb spasticity	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0034353	HP:0006986	Upper limb spasticity	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0034353	HP:0002061	Lower limb spasticity	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0034353	HP:0001285	Spastic tetraparesis	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0034353	HP:0002510	Spastic tetraplegia	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0034353	HP:0002061	Lower limb spasticity	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0034353	HP:0002061	Lower limb spasticity	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0034353	HP:0002061	Lower limb spasticity	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0034353	HP:0001285	Spastic tetraparesis	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0034353	HP:0002061	Lower limb spasticity	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent	60
HP:0034353	HP:0001285	Spastic tetraparesis	1	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040282 - Frequent	60
HP:0034353	HP:0002061	Lower limb spasticity	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0034353	HP:0001264	Spastic diplegia	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0034353	HP:0002061	Lower limb spasticity	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0034353	HP:0002061	Lower limb spasticity	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0034353	HP:0002061	Lower limb spasticity	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0034353	HP:0002061	Lower limb spasticity	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0034353	HP:0002061	Lower limb spasticity	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0034353	HP:0002061	Lower limb spasticity	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0034353	HP:0002510	Spastic tetraplegia	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0034353	HP:0002510	Spastic tetraplegia	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0034353	HP:0002061	Lower limb spasticity	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0034353	HP:0001264	Spastic diplegia	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent	28
HP:0034353	HP:0002510	Spastic tetraplegia	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0034353	HP:0001285	Spastic tetraparesis	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional	1
HP:0034353	HP:0002510	Spastic tetraplegia	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0034353	HP:0011099	Spastic hemiparesis	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0034353	HP:0001285	Spastic tetraparesis	1	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:0034353	HP:0002061	Lower limb spasticity	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare	94
HP:0034353	HP:0001285	Spastic tetraparesis	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0034353	HP:0002061	Lower limb spasticity	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0034353	HP:0001285	Spastic tetraparesis	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0034353	HP:0001264	Spastic diplegia	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	81
HP:0034353	HP:0002061	Lower limb spasticity	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0034353	HP:0001285	Spastic tetraparesis	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0034353	HP:0001285	Spastic tetraparesis	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0034353	HP:0001285	Spastic tetraparesis	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0034353	HP:0002510	Spastic tetraplegia	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0034353	HP:0002510	Spastic tetraplegia	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0034353	HP:0002061	Lower limb spasticity	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0034353	HP:0001264	Spastic diplegia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0034353	HP:0001264	Spastic diplegia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.	90
HP:0034353	HP:0002061	Lower limb spasticity	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0034353	HP:0001264	Spastic diplegia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0034353	HP:0001264	Spastic diplegia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0034353	HP:0002510	Spastic tetraplegia	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0034353	HP:0002510	Spastic tetraplegia	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0034353	HP:0002061	Lower limb spasticity	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0034353	HP:0006986	Upper limb spasticity	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0034353	HP:0002061	Lower limb spasticity	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0034353	HP:0001285	Spastic tetraparesis	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional	87
HP:0034353	HP:0002061	Lower limb spasticity	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0034353	HP:0002061	Lower limb spasticity	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0034353	HP:0001285	Spastic 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:0034353	HP:0002510	Spastic tetraplegia	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0034353	HP:0002061	Lower limb spasticity	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0034353	HP:0002510	Spastic tetraplegia	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0034353	HP:0002061	Lower limb spasticity	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0034353	HP:0002061	Lower limb spasticity	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0034353	HP:0002510	Spastic tetraplegia	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0034353	HP:0002061	Lower limb spasticity	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0034353	HP:0006986	Upper limb spasticity	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0034353	HP:0002061	Lower limb spasticity	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0034353	HP:0002061	Lower limb spasticity	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0034353	HP:0002061	Lower limb spasticity	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0034353	HP:0002510	Spastic tetraplegia	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0034353	HP:0001264	Spastic diplegia	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0034353	HP:0002510	Spastic tetraplegia	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0034353	HP:0001285	Spastic tetraparesis	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0034353	HP:0002061	Lower limb spasticity	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0034353	HP:0002061	Lower limb spasticity	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0034353	HP:0002061	Lower limb spasticity	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0034353	HP:0002510	Spastic tetraplegia	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0034353	HP:0002061	Lower limb spasticity	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0034353	HP:0002061	Lower limb spasticity	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0034353	HP:0006986	Upper limb spasticity	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0034353	HP:0002061	Lower limb spasticity	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0034353	HP:0002510	Spastic tetraplegia	1	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0034353	HP:0002510	Spastic tetraplegia	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0034353	HP:0002061	Lower limb spasticity	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0034353	HP:0001285	Spastic tetraparesis	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0034353	HP:0002061	Lower limb spasticity	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0034353	HP:0002061	Lower limb spasticity	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0034353	HP:0001285	Spastic tetraparesis	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0034353	HP:0002510	Spastic tetraplegia	1	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0034353	HP:0002061	Lower limb spasticity	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0034353	HP:0001285	Spastic tetraparesis	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0034353	HP:0001285	Spastic tetraparesis	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0034353	HP:0002061	Lower limb spasticity	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0034353	HP:0002510	Spastic tetraplegia	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0034353	HP:0002061	Lower limb spasticity	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0034353	HP:0002061	Lower limb spasticity	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0034353	HP:0006986	Upper limb spasticity	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0034353	HP:0002510	Spastic tetraplegia	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0034353	HP:0002061	Lower limb spasticity	1	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4		162
HP:0034353	HP:0002510	Spastic tetraplegia	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0034353	HP:0002510	Spastic tetraplegia	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0034353	HP:0001264	Spastic diplegia	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0034353	HP:0006986	Upper limb spasticity	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0034353	HP:0002061	Lower limb spasticity	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0034353	HP:0001264	Spastic diplegia	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0034353	HP:0002510	Spastic tetraplegia	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0034353	HP:0002510	Spastic tetraplegia	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0034353	HP:0002510	Spastic tetraplegia	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0034353	HP:0001285	Spastic tetraparesis	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0034353	HP:0002510	Spastic tetraplegia	1	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:0034353	HP:0002061	Lower limb spasticity	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0034353	HP:0002510	Spastic tetraplegia	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent	4
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity		255
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare	255
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0034353	HP:0002061	Lower limb spasticity	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0034353	HP:0001285	Spastic tetraparesis	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0034353	HP:0001285	Spastic 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:0034353	HP:0001285	Spastic tetraparesis	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0034353	HP:0002061	Lower limb spasticity	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0034353	HP:0002510	Spastic tetraplegia	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0034353	HP:0002061	Lower limb spasticity	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0034353	HP:0001264	Spastic diplegia	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0034353	HP:0002510	Spastic tetraplegia	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0034353	HP:0001285	Spastic tetraparesis	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	HP:0040284 - Very rare
HP:0034353	HP:0002061	Lower limb spasticity	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0034353	HP:0002061	Lower limb spasticity	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0034353	HP:0006986	Upper limb spasticity	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0034353	HP:0002061	Lower limb spasticity	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0034353	HP:0002061	Lower limb spasticity	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0034353	HP:0011099	Spastic hemiparesis	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0034353	HP:0002510	Spastic tetraplegia	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0034353	HP:0002061	Lower limb spasticity	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	287
HP:0034353	HP:0001264	Spastic diplegia	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0034353	HP:0006986	Upper limb spasticity	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	287
HP:0034353	HP:0002061	Lower limb spasticity	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0034353	HP:0002061	Lower limb spasticity	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0034353	HP:0002061	Lower limb spasticity	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0034353	HP:0002061	Lower limb spasticity	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0034353	HP:0002510	Spastic tetraplegia	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0034353	HP:0001264	Spastic diplegia	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0034353	HP:0002510	Spastic tetraplegia	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0034353	HP:0002061	Lower limb spasticity	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	54
HP:0034353	HP:0006986	Upper limb spasticity	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	54
HP:0034353	HP:0001264	Spastic diplegia	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0034353	HP:0002510	Spastic tetraplegia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0034353	HP:0002061	Lower limb spasticity	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0034353	HP:0001285	Spastic tetraparesis	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0034353	HP:0002061	Lower limb spasticity	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0034353	HP:0001285	Spastic tetraparesis	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0034353	HP:0002061	Lower limb spasticity	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0034353	HP:0002510	Spastic tetraplegia	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0034353	HP:0002061	Lower limb spasticity	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0034353	HP:0002061	Lower limb spasticity	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent	1129
HP:0034353	HP:0002510	Spastic tetraplegia	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0034353	HP:0002061	Lower limb spasticity	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0034353	HP:0001285	Spastic tetraparesis	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0034353	HP:0001264	Spastic diplegia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0034353	HP:0001264	Spastic diplegia	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional	21
HP:0034353	HP:0002510	Spastic tetraplegia	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12
HP:0034353	HP:0001264	Spastic diplegia	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12
HP:0034353	HP:0002510	Spastic tetraplegia	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4	.	15
HP:0034353	HP:0006986	Upper limb spasticity	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0034353	HP:0002061	Lower limb spasticity	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0034353	HP:0001285	Spastic tetraparesis	1	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:0034353	HP:0002061	Lower limb spasticity	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0034353	HP:0002510	Spastic tetraplegia	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0034353	HP:0002061	Lower limb spasticity	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0034353	HP:0002061	Lower limb spasticity	1	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0034353	HP:0002061	Lower limb spasticity	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0034353	HP:0006986	Upper limb spasticity	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0034353	HP:0001285	Spastic tetraparesis	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0034353	HP:0002061	Lower limb spasticity	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0034353	HP:0002510	Spastic tetraplegia	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0034353	HP:0001285	Spastic tetraparesis	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0034353	HP:0002061	Lower limb spasticity	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0034353	HP:0002061	Lower limb spasticity	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0034353	HP:0001285	Spastic tetraparesis	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA		1
HP:0034353	HP:0002061	Lower limb spasticity	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0034353	HP:0002510	Spastic tetraplegia	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0034353	HP:0002061	Lower limb spasticity	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0034353	HP:0002061	Lower limb spasticity	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0034353	HP:0002510	Spastic tetraplegia	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0034353	HP:0002510	Spastic tetraplegia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0034353	HP:0001264	Spastic diplegia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0034353	HP:0002510	Spastic tetraplegia	1	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	HP:0040283 - Occasional	14
HP:0034353	HP:0002061	Lower limb spasticity	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0034353	HP:0006986	Upper limb spasticity	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0034353	HP:0002061	Lower limb spasticity	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0034353	HP:0002061	Lower limb spasticity	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS		1
HP:0034353	HP:0002061	Lower limb spasticity	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0034353	HP:0002510	Spastic tetraplegia	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0034353	HP:0002061	Lower limb spasticity	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent	7
HP:0034353	HP:0002061	Lower limb spasticity	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040281 - Very frequent	2
HP:0034353	HP:0002061	Lower limb spasticity	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0034353	HP:0002061	Lower limb spasticity	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0034353	HP:0002061	Lower limb spasticity	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0034353	HP:0002061	Lower limb spasticity	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0034353	HP:0002061	Lower limb spasticity	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0034353	HP:0002510	Spastic tetraplegia	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0034353	HP:0002061	Lower limb spasticity	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0034353	HP:0002510	Spastic tetraplegia	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0034353	HP:0002510	Spastic tetraplegia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0034353	HP:0006986	Upper limb spasticity	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040283 - Occasional	83
HP:0034353	HP:0002061	Lower limb spasticity	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0034353	HP:0002061	Lower limb spasticity	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0034353	HP:0006986	Upper limb spasticity	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	HP:0040283 - Occasional	83
HP:0034353	HP:0002061	Lower limb spasticity	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0034353	HP:0002061	Lower limb spasticity	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0034353	HP:0002510	Spastic tetraplegia	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0034353	HP:0002061	Lower limb spasticity	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0034353	HP:0002061	Lower limb spasticity	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0034353	HP:0001285	Spastic tetraparesis	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0034353	HP:0002510	Spastic tetraplegia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0034353	HP:0002061	Lower limb spasticity	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0034353	HP:0002510	Spastic tetraplegia	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0034353	HP:0002061	Lower limb spasticity	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0034353	HP:0006986	Upper limb spasticity	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0034353	HP:0002061	Lower limb spasticity	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0034353	HP:0002061	Lower limb spasticity	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0034353	HP:0002061	Lower limb spasticity	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0034353	HP:0001258	Spastic paraplegia	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0034353	HP:0002313	Spastic paraparesis	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0034353	HP:0001258	Spastic paraplegia	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0034353	HP:0002313	Spastic paraparesis	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0034353	HP:0002313	Spastic paraparesis	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0034353	HP:0002313	Spastic paraparesis	2	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0034353	HP:0001258	Spastic paraplegia	2	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0034353	HP:0002313	Spastic paraparesis	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0034353	HP:0001258	Spastic paraplegia	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0034353	HP:0001258	Spastic paraplegia	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0034353	HP:0002313	Spastic paraparesis	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0034353	HP:0001258	Spastic paraplegia	2	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0034353	HP:0001258	Spastic paraplegia	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0034353	HP:0001258	Spastic paraplegia	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0034353	HP:0001258	Spastic paraplegia	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0034353	HP:0001258	Spastic paraplegia	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0034353	HP:0001258	Spastic paraplegia	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0034353	HP:0002313	Spastic paraparesis	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0034353	HP:0001258	Spastic paraplegia	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0034353	HP:0001258	Spastic paraplegia	2	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0034353	HP:0001258	Spastic paraplegia	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0034353	HP:0001258	Spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0034353	HP:0001258	Spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0034353	HP:0001258	Spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0034353	HP:0001258	Spastic paraplegia	2	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0034353	HP:0001258	Spastic paraplegia	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0034353	HP:0002313	Spastic paraparesis	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0034353	HP:0001258	Spastic paraplegia	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0034353	HP:0001258	Spastic paraplegia	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0034353	HP:0002313	Spastic paraparesis	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0034353	HP:0001258	Spastic paraplegia	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0034353	HP:0002313	Spastic paraparesis	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0034353	HP:0002313	Spastic paraparesis	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040281 - Very frequent	114
HP:0034353	HP:0002313	Spastic paraparesis	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0034353	HP:0001258	Spastic paraplegia	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0034353	HP:0001258	Spastic paraplegia	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0034353	HP:0001258	Spastic paraplegia	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0034353	HP:0002313	Spastic paraparesis	2	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0034353	HP:0002313	Spastic paraparesis	2	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0034353	HP:0001258	Spastic paraplegia	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0034353	HP:0001258	Spastic paraplegia	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0034353	HP:0002313	Spastic paraparesis	2	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0034353	HP:0002313	Spastic paraparesis	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0034353	HP:0001258	Spastic paraplegia	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0034353	HP:0001258	Spastic paraplegia	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0034353	HP:0002313	Spastic paraparesis	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0034353	HP:0001258	Spastic paraplegia	2	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0034353	HP:0002313	Spastic paraparesis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040284 - Very rare	114
HP:0034353	HP:0001258	Spastic paraplegia	2	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional	18
HP:0034353	HP:0001258	Spastic paraplegia	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0034353	HP:0001258	Spastic paraplegia	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0034353	HP:0001258	Spastic paraplegia	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0034353	HP:0001258	Spastic paraplegia	2	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0034353	HP:0001258	Spastic paraplegia	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040281 - Very frequent	29
HP:0034353	HP:0001258	Spastic paraplegia	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0034353	HP:0001258	Spastic paraplegia	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0034353	HP:0001258	Spastic paraplegia	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0034353	HP:0001258	Spastic paraplegia	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0034353	HP:0001258	Spastic paraplegia	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0034353	HP:0002313	Spastic paraparesis	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0034353	HP:0001258	Spastic paraplegia	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0034353	HP:0001258	Spastic paraplegia	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0034353	HP:0001258	Spastic paraplegia	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0034353	HP:0001258	Spastic paraplegia	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0034353	HP:0002313	Spastic paraparesis	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0034353	HP:0001258	Spastic paraplegia	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0034353	HP:0001258	Spastic paraplegia	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0034353	HP:0002313	Spastic paraparesis	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0034353	HP:0001258	Spastic paraplegia	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0034353	HP:0001258	Spastic paraplegia	2	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0034353	HP:0001258	Spastic paraplegia	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0034353	HP:0001258	Spastic paraplegia	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0034353	HP:0002313	Spastic paraparesis	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0034353	HP:0002313	Spastic paraparesis	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0034353	HP:0001258	Spastic paraplegia	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0034353	HP:0002313	Spastic paraparesis	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0034353	HP:0001258	Spastic paraplegia	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0034353	HP:0001258	Spastic paraplegia	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0034353	HP:0001258	Spastic paraplegia	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0034353	HP:0002313	Spastic paraparesis	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0034353	HP:0002313	Spastic paraparesis	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0034353	HP:0002313	Spastic paraparesis	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0034353	HP:0001258	Spastic paraplegia	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0034353	HP:0002313	Spastic paraparesis	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0034353	HP:0001258	Spastic paraplegia	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0034353	HP:0001258	Spastic paraplegia	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0034353	HP:0001258	Spastic paraplegia	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0034353	HP:0001258	Spastic paraplegia	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0034353	HP:0001258	Spastic paraplegia	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040281 - Very frequent	46
HP:0034353	HP:0001258	Spastic paraplegia	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0034353	HP:0001258	Spastic paraplegia	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0034353	HP:0001258	Spastic paraplegia	2	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0034353	HP:0002313	Spastic paraparesis	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0034353	HP:0002313	Spastic paraparesis	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional	115
HP:0034353	HP:0002313	Spastic paraparesis	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0034353	HP:0001258	Spastic paraplegia	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0034353	HP:0001258	Spastic paraplegia	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0034353	HP:0001258	Spastic paraplegia	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0034353	HP:0001258	Spastic paraplegia	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0034353	HP:0001258	Spastic paraplegia	2	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0034353	HP:0001258	Spastic paraplegia	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0034353	HP:0001258	Spastic paraplegia	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0034353	HP:0001258	Spastic paraplegia	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0034353	HP:0001258	Spastic paraplegia	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0034353	HP:0001258	Spastic paraplegia	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0034353	HP:0001258	Spastic paraplegia	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0034353	HP:0001258	Spastic paraplegia	2	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0034353	HP:0001258	Spastic paraplegia	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent	134
HP:0034353	HP:0001258	Spastic paraplegia	2	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0034353	HP:0001258	Spastic paraplegia	2	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040281 - Very frequent	134
HP:0034353	HP:0001258	Spastic paraplegia	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0034353	HP:0001258	Spastic paraplegia	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0034353	HP:0002313	Spastic paraparesis	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0034353	HP:0001258	Spastic paraplegia	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0034353	HP:0001258	Spastic paraplegia	2	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0034353	HP:0002313	Spastic paraparesis	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0034353	HP:0001258	Spastic paraplegia	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0034353	HP:0001258	Spastic paraplegia	2	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0034353	HP:0001258	Spastic paraplegia	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0034353	HP:0002313	Spastic paraparesis	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0034353	HP:0002313	Spastic paraparesis	2	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0034353	HP:0001258	Spastic paraplegia	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0034353	HP:0002313	Spastic paraparesis	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent	183
HP:0034353	HP:0002313	Spastic paraparesis	2	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent	19
HP:0034353	HP:0002313	Spastic paraparesis	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0034353	HP:0002313	Spastic paraparesis	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0034353	HP:0002313	Spastic paraparesis	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0034353	HP:0001258	Spastic paraplegia	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0034353	HP:0001258	Spastic paraplegia	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0034353	HP:0001258	Spastic paraplegia	2	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0034353	HP:0001258	Spastic paraplegia	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0034353	HP:0001258	Spastic paraplegia	2	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0034353	HP:0001258	Spastic paraplegia	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0034353	HP:0001258	Spastic paraplegia	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0034353	HP:0001258	Spastic paraplegia	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0034353	HP:0002313	Spastic paraparesis	2	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent	163
HP:0034353	HP:0001258	Spastic paraplegia	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0034353	HP:0001258	Spastic paraplegia	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0034353	HP:0001258	Spastic paraplegia	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0034353	HP:0001258	Spastic paraplegia	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0034353	HP:0001258	Spastic paraplegia	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0034353	HP:0002313	Spastic paraparesis	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0034353	HP:0001258	Spastic paraplegia	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0034353	HP:0001258	Spastic paraplegia	2	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0034353	HP:0001258	Spastic paraplegia	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0034353	HP:0001258	Spastic paraplegia	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0034353	HP:0001258	Spastic paraplegia	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0034353	HP:0002313	Spastic paraparesis	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0034353	HP:0001258	Spastic paraplegia	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0034353	HP:0002313	Spastic paraparesis	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0034353	HP:0001258	Spastic paraplegia	2	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0034353	HP:0001258	Spastic paraplegia	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0034353	HP:0001258	Spastic paraplegia	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0034353	HP:0002313	Spastic paraparesis	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0034353	HP:0002313	Spastic paraparesis	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0034353	HP:0002313	Spastic paraparesis	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0034353	HP:0002313	Spastic paraparesis	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0034353	HP:0001258	Spastic paraplegia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0034353	HP:0001258	Spastic paraplegia	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0034353	HP:0001258	Spastic paraplegia	2	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0034353	HP:0002313	Spastic paraparesis	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0034353	HP:0002313	Spastic paraparesis	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0034353	HP:0001258	Spastic paraplegia	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	HP:0040283 - Occasional	34
HP:0034353	HP:0002313	Spastic paraparesis	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0034353	HP:0001258	Spastic paraplegia	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0034353	HP:0001258	Spastic paraplegia	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0034353	HP:0002313	Spastic paraparesis	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0034353	HP:0001258	Spastic paraplegia	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0034353	HP:0001258	Spastic paraplegia	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0034353	HP:0002313	Spastic paraparesis	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0034353	HP:0002313	Spastic paraparesis	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0034353	HP:0001258	Spastic paraplegia	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0034353	HP:0002313	Spastic paraparesis	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0034353	HP:0002313	Spastic paraparesis	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0034353	HP:0002313	Spastic paraparesis	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0034353	HP:0001258	Spastic paraplegia	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0034353	HP:0002313	Spastic paraparesis	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0034353	HP:0001258	Spastic paraplegia	2	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040283 - Occasional	162
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0034353	HP:0002313	Spastic paraparesis	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent	255
HP:0034353	HP:0002313	Spastic paraparesis	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0034353	HP:0002313	Spastic paraparesis	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0034353	HP:0001258	Spastic paraplegia	2	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0034353	HP:0002313	Spastic paraparesis	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0034353	HP:0002313	Spastic paraparesis	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0034353	HP:0002313	Spastic paraparesis	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0034353	HP:0001258	Spastic paraplegia	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0034353	HP:0001258	Spastic paraplegia	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0034353	HP:0001258	Spastic paraplegia	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0034353	HP:0002313	Spastic paraparesis	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0034353	HP:0001258	Spastic paraplegia	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0034353	HP:0002313	Spastic paraparesis	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0034353	HP:0001258	Spastic paraplegia	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0034353	HP:0001258	Spastic paraplegia	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0034353	HP:0001258	Spastic paraplegia	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0034353	HP:0001258	Spastic paraplegia	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0034353	HP:0002313	Spastic paraparesis	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0034353	HP:0001258	Spastic paraplegia	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0034353	HP:0001258	Spastic paraplegia	2	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent	18
HP:0034353	HP:0001258	Spastic paraplegia	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0034353	HP:0001258	Spastic paraplegia	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0034353	HP:0002313	Spastic paraparesis	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0034353	HP:0002313	Spastic paraparesis	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0034353	HP:0002313	Spastic paraparesis	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0034353	HP:0001258	Spastic paraplegia	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0034353	HP:0001258	Spastic paraplegia	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0034353	HP:0001258	Spastic paraplegia	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0034353	HP:0001258	Spastic paraplegia	2	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040281 - Very frequent	7
HP:0034353	HP:0001258	Spastic paraplegia	2	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0034353	HP:0001258	Spastic paraplegia	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0034353	HP:0001258	Spastic paraplegia	2	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0034353	HP:0001258	Spastic paraplegia	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0034353	HP:0001258	Spastic paraplegia	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0034353	HP:0001258	Spastic paraplegia	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0034353	HP:0002313	Spastic paraparesis	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0034353	HP:0002313	Spastic paraparesis	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0034353	HP:0001258	Spastic paraplegia	2	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0034353	HP:0001258	Spastic paraplegia	2	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0034353	HP:0001258	Spastic paraplegia	2	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0034353	HP:0001258	Spastic paraplegia	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0034353	HP:0001258	Spastic paraplegia	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0034353	HP:0001258	Spastic paraplegia	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	49
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	48
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	41
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	18
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040281 - Very frequent	165
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent	76
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040280 - Obligate	36
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040281 - Very frequent	10
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040281 - Very frequent	16
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040282 - Frequent	60
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent	171
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0034353	HP:0007199	Progressive spastic paraparesis	3	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:0034353	HP:0007020	Progressive spastic paraplegia	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0034353	HP:0007020	Progressive spastic paraplegia	3	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1

Genes (382) :AARS1 AASS ABCD1 ABHD16A ACP5 ACTL6B ADAR ADD3 ADGRG1 AFF3 AFG3L2 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALG3 ALG9 ALS2 AMPD2 ANKLE2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APOE ARG1 ARL6IP1 ARSA ARSI ARX ASNS ATL1 ATN1 ATP13A2 ATP5MC3 ATP6 ATP6AP2 ATP6V0A1 ATP6V1A ATRX ATXN10 AUH B4GALNT1 BCL11B BCOR BICD2 BSCL2 BTD C19ORF12 CACNA1C CACNA1D CACNA1E CAMK2B CAPN1 CCDC88C CCT5 CDC40 CLCN4 CLIC2 CLN8 CLTC CNP CNPY3 CNTNAP2 COA8 COASY COG2 COL4A2 COLGALT1 COQ5 COX15 CPT1C CSF1R CTNNA2 CTNNB1 CYB5A CYB5R3 CYP27A1 CYP2U1 CYP7B1 DARS1 DDHD1 DDHD2 DEGS1 DNAJC19 DNM1L DPH5 DSTYK DTYMK DYM DYNC1H1 EARS2 ECHS1 EDNRB EIF2AK1 EIF2S3 ELOVL1 ELOVL4 ELP2 ENTPD1 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 ERLIN2 EXOC2 EXOSC8 FA2H FAR1 FARS2 FBLN1 FBXO7 FCSK FLNA FLRT1 FOXRED1 FUCA1 FUS GALC GAMT GAN GATAD2B GBA1 GBA2 GBE1 GCDH GFAP GFM2 GJA1 GJC2 GLB1 GLRX5 GLYCTK GM2A GOT2 GPT2 GRIA4 GRIN1 GSS GSX2 GTPBP2 GUF1 H4C5 HACE1 HEPACAM HMGCL HPDL HSD17B10 HSD17B4 HSPD1 HUWE1 IBA57 IDUA IFIH1 INPP5K INTS8 KANK1 KARS1 KCNC2 KCNJ6 KCNQ2 KDM5C KIDINS220 KIF1A KIF2A KIF5A KIF5C KLC2 KPNA3 KY L1CAM L2HGDH LAMB1 LIAS LIPT1 LIPT2 LMNB1 LMX1B LSM11 LYRM7 LYST MAG MAN2B1 MARS1 MCOLN1 MECP2 MED13L MFSD2A MICOS13 MINPP1 MOCS1 MOCS2 MRE11 MRM2 MRPS22 MTFMT MTHFR MTPAP MTRFR NAA10 NALCN NAXD NDE1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NEXMIF NFU1 NIPA1 NSRP1 NT5C2 NTRK2 NUP62 ODC1 OPA1 OPA3 OSTM1 OTUD6B PAFAH1B1 PAX3 PCDH12 PDHA1 PDHX PET100 PEX16 PEX3 PGAP1 PHACTR1 PHGDH PI4KA PIGA PLA2G6 PLP1 PNP PNPLA6 POLG POLR3GL PPFIBP1 PPIL1 PPP1R15B PQBP1 PRDM13 PRDM8 PRNP PRPS1 PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PSMC1 RAB18 RAB3GAP1 RAB3GAP2 RANBP2 RARS1 RARS2 REEP1 REEP2 RERE RNASEH2A RNASEH2B RNASEH2C RNF170 RNF220 RNU7-1 RTN2 SACS SAMHD1 SATB1 SATB2 SCN2A SCN3A SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEPSECS SETX SHMT2 SHQ1 SIGMAR1 SIX6 SLC16A2 SLC18A2 SLC19A3 SLC1A4 SLC25A15 SLC2A1 SLC30A10 SLC33A1 SLC35A2 SMC1A SOD1 SOX10 SOX2 SOX4 SPART SPAST SPATA5L1 SPG11 SPG21 SPG7 SPTAN1 SPTBN1 SPTLC1 SRPX2 STAMBP STUB1 STXBP1 SURF1 SYNE1 SYNJ1 TACO1 TAF1 TANGO2 TBC1D20 TBCD TBCE TECPR2 TFG THOC2 TMEM222 TMEM63C TMTC3 TMX2 TNR TOE1 TPK1 TRAPPC4 TREX1 TRMT10A TSEN15 TTC19 TUBA1A TUBB3 TUBG1 UBAP1 UBE4A UCHL1 UNC80 USP8 VAMP1 VCP VPS37A VPS41 VPS53 VWA3B WARS2 WASHC5 WDR45 WDR45B WDR48 WDR62 WDR73 WWOX YIF1B ZFR ZFYVE26 ZFYVE27

Diseases (465) :OMIM:619691 ORPHA:2203 ORPHA:3124 OMIM:300100 ORPHA:139399 ORPHA:139396 OMIM:619735 OMIM:607944 OMIM:618468 ORPHA:51 ORPHA:225154 OMIM:617008 ORPHA:98889 OMIM:619297 ORPHA:313772 OMIM:614487 ORPHA:83629 OMIM:260600 OMIM:601162 OMIM:616586 ORPHA:816 OMIM:270200 ORPHA:79321 ORPHA:79328 OMIM:205100 ORPHA:293168 ORPHA:300605 ORPHA:247604 OMIM:606353 OMIM:607225 OMIM:615686 OMIM:616681 ORPHA:85335 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:613647 OMIM:618677 OMIM:607822 OMIM:207800 OMIM:615685 OMIM:250100 ORPHA:401815 OMIM:300004 OMIM:308350 ORPHA:94083 OMIM:309510 OMIM:615574 ORPHA:100984 OMIM:182600 OMIM:618494 ORPHA:513436 OMIM:606693 OMIM:617225 OMIM:619681 ORPHA:320360 ORPHA:363654 OMIM:619971 OMIM:618012 ORPHA:847 ORPHA:98761 ORPHA:67046 OMIM:250950 ORPHA:101006 OMIM:609195 OMIM:617237 OMIM:309800 OMIM:300166 OMIM:615290 OMIM:270685 ORPHA:79241 ORPHA:320370 ORPHA:289560 OMIM:615043 OMIM:620029 OMIM:615474 ORPHA:369929 OMIM:618285 OMIM:617799 ORPHA:488594 OMIM:616907 OMIM:616053 ORPHA:423275 ORPHA:139578 OMIM:256840 OMIM:619302 ORPHA:485350 OMIM:300114 OMIM:300886 ORPHA:324410 ORPHA:1947 OMIM:617854 OMIM:619071 OMIM:617929 ORPHA:163681 OMIM:619061 ORPHA:436271 ORPHA:397725 OMIM:615643 ORPHA:435934 OMIM:617395 OMIM:614483 OMIM:618360 OMIM:619028 ORPHA:255241 ORPHA:444099 OMIM:616282 OMIM:618476 OMIM:618174 OMIM:615075 ORPHA:621 ORPHA:909 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 OMIM:615281 ORPHA:101008 OMIM:609340 ORPHA:320380 OMIM:615033 OMIM:618404 ORPHA:66634 ORPHA:98673 OMIM:620070 ORPHA:101003 OMIM:270750 OMIM:619847 ORPHA:239 OMIM:614563 OMIM:614924 OMIM:277580 OMIM:618878 OMIM:300148 OMIM:618527 OMIM:614457 OMIM:617270 OMIM:615683 ORPHA:90322 ORPHA:90321 ORPHA:401785 OMIM:615681 OMIM:611225 OMIM:619306 OMIM:616081 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:619338 ORPHA:438178 OMIM:616154 ORPHA:466722 OMIM:617046 ORPHA:404451 OMIM:260300 OMIM:618324 OMIM:300048 ORPHA:320406 OMIM:230000 ORPHA:349 ORPHA:206448 ORPHA:206436 ORPHA:206443 OMIM:612736 OMIM:256850 ORPHA:363686 OMIM:231000 ORPHA:2072 ORPHA:352641 ORPHA:320391 OMIM:614409 OMIM:263570 OMIM:231670 ORPHA:363722 ORPHA:565624 ORPHA:2710 ORPHA:320401 OMIM:608804 OMIM:613206 OMIM:230600 ORPHA:401866 OMIM:616859 OMIM:220120 OMIM:272750 OMIM:618721 ORPHA:477673 OMIM:617864 ORPHA:208447 OMIM:266130 OMIM:618646 OMIM:617988 OMIM:617065 OMIM:619950 OMIM:616756 ORPHA:464282 OMIM:613925 ORPHA:20 OMIM:619026 OMIM:619027 ORPHA:391428 OMIM:300438 OMIM:233400 ORPHA:100994 OMIM:605280 OMIM:309590 ORPHA:468661 OMIM:615330 OMIM:616451 ORPHA:93473 ORPHA:93474 OMIM:615846 OMIM:617404 OMIM:618572 OMIM:612900 OMIM:619147 OMIM:619913 ORPHA:435628 OMIM:614098 OMIM:613720 OMIM:300534 OMIM:617296 ORPHA:521390 ORPHA:101010 OMIM:610357 OMIM:615411 ORPHA:100991 OMIM:604187 OMIM:615282 OMIM:609541 ORPHA:171612 ORPHA:496689 OMIM:307000 OMIM:303350 ORPHA:2466 ORPHA:306617 OMIM:236792 ORPHA:79314 OMIM:615191 OMIM:614462 OMIM:616299 OMIM:617668 OMIM:619179 ORPHA:495818 OMIM:615838 ORPHA:167 ORPHA:459056 OMIM:616680 ORPHA:309282 ORPHA:401835 OMIM:252650 OMIM:300260 OMIM:300055 ORPHA:3077 ORPHA:369891 OMIM:616486 ORPHA:67047 OMIM:619527 OMIM:252150 OMIM:252160 OMIM:604391 OMIM:618567 OMIM:611719 OMIM:618248 ORPHA:395 ORPHA:254343 OMIM:613672 ORPHA:320375 ORPHA:254930 OMIM:615035 OMIM:615419 ORPHA:371364 OMIM:618321 ORPHA:2177 OMIM:605013 OMIM:618249 OMIM:619065 OMIM:618237 OMIM:618238 ORPHA:93399 OMIM:300912 OMIM:605711 ORPHA:100988 OMIM:600363 OMIM:620001 ORPHA:320396 OMIM:613162 OMIM:617830 OMIM:619075 ORPHA:1215 OMIM:259720 ORPHA:505237 OMIM:617452 OMIM:607432 ORPHA:896 OMIM:148820 OMIM:251280 ORPHA:255182 OMIM:245349 OMIM:619055 OMIM:614877 OMIM:617370 ORPHA:401820 OMIM:618298 ORPHA:79351 OMIM:601815 OMIM:619621 OMIM:300868 ORPHA:35069 OMIM:256600 ORPHA:280234 OMIM:312080 ORPHA:280229 ORPHA:280219 ORPHA:280210 ORPHA:280224 OMIM:312920 OMIM:613179 ORPHA:760 ORPHA:139480 OMIM:245800 OMIM:612020 ORPHA:726 OMIM:619234 OMIM:620024 OMIM:619301 ORPHA:391408 ORPHA:93947 OMIM:619909 ORPHA:324290 OMIM:616640 ORPHA:282166 ORPHA:423479 ORPHA:98811 OMIM:617481 ORPHA:544469 OMIM:249900 ORPHA:284417 OMIM:620071 OMIM:614222 OMIM:619420 OMIM:600118 ORPHA:401830 OMIM:212720 OMIM:614225 OMIM:608033 ORPHA:88619 ORPHA:438114 OMIM:611523 ORPHA:101011 OMIM:610250 OMIM:615625 OMIM:616975 OMIM:610181 OMIM:619686 OMIM:619688 OMIM:619487 ORPHA:100993 OMIM:604805 ORPHA:98 OMIM:619229 ORPHA:251028 OMIM:613721 OMIM:617938 ORPHA:3208 OMIM:619166 OMIM:618651 ORPHA:506353 OMIM:618768 OMIM:613811 ORPHA:357043 OMIM:619121 OMIM:619922 OMIM:206900 ORPHA:59 OMIM:300523 ORPHA:352649 ORPHA:263410 OMIM:616657 ORPHA:447997 ORPHA:415 OMIM:238970 OMIM:601042 ORPHA:168577 ORPHA:53583 ORPHA:309854 OMIM:613280 ORPHA:171863 OMIM:612539 ORPHA:356961 OMIM:301044 OMIM:618598 OMIM:609136 OMIM:618506 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:619616 OMIM:604360 OMIM:248900 ORPHA:35689 OMIM:607259 OMIM:613477 OMIM:619475 OMIM:614261 ORPHA:412057 OMIM:612164 ORPHA:88644 OMIM:617389 OMIM:619052 OMIM:300966 ORPHA:480907 OMIM:616878 OMIM:615663 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:615031 ORPHA:431329 OMIM:615658 ORPHA:457240 OMIM:619470 OMIM:619966 OMIM:617255 OMIM:618730 OMIM:619653 OMIM:614969 OMIM:614458 OMIM:618741 OMIM:617026 OMIM:615157 OMIM:611603 ORPHA:300570 OMIM:615412 OMIM:618418 OMIM:619639 OMIM:615491 ORPHA:401795 ORPHA:251282 OMIM:108600 OMIM:613954 ORPHA:329475 OMIM:614898 OMIM:619389 OMIM:615851 OMIM:616948 OMIM:617710 ORPHA:572798 ORPHA:100989 OMIM:603563 ORPHA:329284 OMIM:300894 OMIM:617977 ORPHA:401800 OMIM:604317 OMIM:251300 OMIM:614322 OMIM:619125 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:610244

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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