Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002061	HP:0002061	Lower limb spasticity	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0002061	HP:0002061	Lower limb spasticity	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0002061	HP:0002061	Lower limb spasticity	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0002061	HP:0002061	Lower limb spasticity	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002061	HP:0002061	Lower limb spasticity	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0002061	HP:0002061	Lower limb spasticity	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0002061	HP:0002061	Lower limb spasticity	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0002061	HP:0002061	Lower limb spasticity	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0002061	HP:0002061	Lower limb spasticity	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0002061	HP:0002061	Lower limb spasticity	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0002061	HP:0002061	Lower limb spasticity	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0002061	HP:0002061	Lower limb spasticity	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0002061	HP:0002061	Lower limb spasticity	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0002061	HP:0002061	Lower limb spasticity	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0002061	HP:0002061	Lower limb spasticity	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002061	HP:0002061	Lower limb spasticity	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0002061	HP:0002061	Lower limb spasticity	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0002061	HP:0002061	Lower limb spasticity	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	114
HP:0002061	HP:0002061	Lower limb spasticity	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0002061	HP:0002061	Lower limb spasticity	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0002061	HP:0002061	Lower limb spasticity	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0002061	HP:0002061	Lower limb spasticity	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0002061	HP:0002061	Lower limb spasticity	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0002061	HP:0002061	Lower limb spasticity	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002061	HP:0002061	Lower limb spasticity	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0002061	HP:0002061	Lower limb spasticity	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0002061	HP:0002061	Lower limb spasticity	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent	166
HP:0002061	HP:0002061	Lower limb spasticity	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.	166
HP:0002061	HP:0002061	Lower limb spasticity	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent	71
HP:0002061	HP:0002061	Lower limb spasticity	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0002061	HP:0002061	Lower limb spasticity	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0002061	HP:0002061	Lower limb spasticity	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0002061	HP:0002061	Lower limb spasticity	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002061	HP:0002061	Lower limb spasticity	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0002061	HP:0002061	Lower limb spasticity	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0002061	HP:0002061	Lower limb spasticity	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0002061	HP:0002061	Lower limb spasticity	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0002061	HP:0002061	Lower limb spasticity	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0002061	HP:0002061	Lower limb spasticity	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent	25
HP:0002061	HP:0002061	Lower limb spasticity	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0002061	HP:0002061	Lower limb spasticity	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002061	HP:0002061	Lower limb spasticity	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002061	HP:0002061	Lower limb spasticity	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0002061	HP:0002061	Lower limb spasticity	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0002061	HP:0002061	Lower limb spasticity	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0002061	HP:0002061	Lower limb spasticity	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0002061	HP:0002061	Lower limb spasticity	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0002061	HP:0002061	Lower limb spasticity	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002061	HP:0002061	Lower limb spasticity	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0002061	HP:0002061	Lower limb spasticity	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002061	HP:0002061	Lower limb spasticity	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040281 - Very frequent	4
HP:0002061	HP:0002061	Lower limb spasticity	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0002061	HP:0002061	Lower limb spasticity	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0002061	HP:0002061	Lower limb spasticity	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0002061	HP:0002061	Lower limb spasticity	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0002061	HP:0002061	Lower limb spasticity	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0002061	HP:0002061	Lower limb spasticity	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0002061	HP:0002061	Lower limb spasticity	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0002061	HP:0002061	Lower limb spasticity	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0002061	HP:0002061	Lower limb spasticity	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0002061	HP:0002061	Lower limb spasticity	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration		16
HP:0002061	HP:0002061	Lower limb spasticity	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0002061	HP:0002061	Lower limb spasticity	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0002061	HP:0002061	Lower limb spasticity	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0002061	HP:0002061	Lower limb spasticity	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0002061	HP:0002061	Lower limb spasticity	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0002061	HP:0002061	Lower limb spasticity	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0002061	HP:0002061	Lower limb spasticity	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0002061	HP:0002061	Lower limb spasticity	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0002061	HP:0002061	Lower limb spasticity	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0002061	HP:0002061	Lower limb spasticity	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0002061	HP:0002061	Lower limb spasticity	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0002061	HP:0002061	Lower limb spasticity	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0002061	HP:0002061	Lower limb spasticity	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0002061	HP:0002061	Lower limb spasticity	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0002061	HP:0002061	Lower limb spasticity	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0002061	HP:0002061	Lower limb spasticity	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0002061	HP:0002061	Lower limb spasticity	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0002061	HP:0002061	Lower limb spasticity	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0002061	HP:0002061	Lower limb spasticity	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0002061	HP:0002061	Lower limb spasticity	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0002061	HP:0002061	Lower limb spasticity	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0002061	HP:0002061	Lower limb spasticity	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002061	HP:0002061	Lower limb spasticity	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0002061	HP:0002061	Lower limb spasticity	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0002061	HP:0002061	Lower limb spasticity	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0002061	HP:0002061	Lower limb spasticity	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0002061	HP:0002061	Lower limb spasticity	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0002061	HP:0002061	Lower limb spasticity	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0002061	HP:0002061	Lower limb spasticity	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0002061	HP:0002061	Lower limb spasticity	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0002061	HP:0002061	Lower limb spasticity	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040281 - Very frequent	2
HP:0002061	HP:0002061	Lower limb spasticity	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.	2
HP:0002061	HP:0002061	Lower limb spasticity	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0002061	HP:0002061	Lower limb spasticity	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0002061	HP:0002061	Lower limb spasticity	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0002061	HP:0002061	Lower limb spasticity	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0002061	HP:0002061	Lower limb spasticity	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0002061	HP:0002061	Lower limb spasticity	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0002061	HP:0002061	Lower limb spasticity	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0002061	HP:0002061	Lower limb spasticity	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0002061	HP:0002061	Lower limb spasticity	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0002061	HP:0002061	Lower limb spasticity	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0002061	HP:0002061	Lower limb spasticity	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0002061	HP:0002061	Lower limb spasticity	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0002061	HP:0002061	Lower limb spasticity	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0002061	HP:0002061	Lower limb spasticity	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0002061	HP:0002061	Lower limb spasticity	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0002061	HP:0002061	Lower limb spasticity	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0002061	HP:0002061	Lower limb spasticity	0	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:0002061	HP:0002061	Lower limb spasticity	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0002061	HP:0002061	Lower limb spasticity	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002061	HP:0002061	Lower limb spasticity	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent	30
HP:0002061	HP:0002061	Lower limb spasticity	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040281 - Very frequent	30
HP:0002061	HP:0002061	Lower limb spasticity	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0002061	HP:0002061	Lower limb spasticity	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0002061	HP:0002061	Lower limb spasticity	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0002061	HP:0002061	Lower limb spasticity	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002061	HP:0002061	Lower limb spasticity	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0002061	HP:0002061	Lower limb spasticity	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0002061	HP:0002061	Lower limb spasticity	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0002061	HP:0002061	Lower limb spasticity	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0002061	HP:0002061	Lower limb spasticity	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002061	HP:0002061	Lower limb spasticity	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0002061	HP:0002061	Lower limb spasticity	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002061	HP:0002061	Lower limb spasticity	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0002061	HP:0002061	Lower limb spasticity	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0002061	HP:0002061	Lower limb spasticity	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0002061	HP:0002061	Lower limb spasticity	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002061	HP:0002061	Lower limb spasticity	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0002061	HP:0002061	Lower limb spasticity	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0002061	HP:0002061	Lower limb spasticity	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0002061	HP:0002061	Lower limb spasticity	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0002061	HP:0002061	Lower limb spasticity	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0002061	HP:0002061	Lower limb spasticity	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0002061	HP:0002061	Lower limb spasticity	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0002061	HP:0002061	Lower limb spasticity	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0002061	HP:0002061	Lower limb spasticity	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002061	HP:0002061	Lower limb spasticity	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	HP:0040283 - Occasional	7
HP:0002061	HP:0002061	Lower limb spasticity	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002061	HP:0002061	Lower limb spasticity	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002061	HP:0002061	Lower limb spasticity	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002061	HP:0002061	Lower limb spasticity	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0002061	HP:0002061	Lower limb spasticity	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0002061	HP:0002061	Lower limb spasticity	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0002061	HP:0002061	Lower limb spasticity	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040280 - Obligate	93
HP:0002061	HP:0002061	Lower limb spasticity	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002061	HP:0002061	Lower limb spasticity	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0002061	HP:0002061	Lower limb spasticity	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0002061	HP:0002061	Lower limb spasticity	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0002061	HP:0002061	Lower limb spasticity	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0002061	HP:0002061	Lower limb spasticity	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0002061	HP:0002061	Lower limb spasticity	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0002061	HP:0002061	Lower limb spasticity	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0002061	HP:0002061	Lower limb spasticity	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1		134
HP:0002061	HP:0002061	Lower limb spasticity	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0002061	HP:0002061	Lower limb spasticity	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0002061	HP:0002061	Lower limb spasticity	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002061	HP:0002061	Lower limb spasticity	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0002061	HP:0002061	Lower limb spasticity	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0002061	HP:0002061	Lower limb spasticity	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0002061	HP:0002061	Lower limb spasticity	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0002061	HP:0002061	Lower limb spasticity	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0002061	HP:0002061	Lower limb spasticity	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0002061	HP:0002061	Lower limb spasticity	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002061	HP:0002061	Lower limb spasticity	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950
HP:0002061	HP:0002061	Lower limb spasticity	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0002061	HP:0002061	Lower limb spasticity	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0002061	HP:0002061	Lower limb spasticity	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0002061	HP:0002061	Lower limb spasticity	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0002061	HP:0002061	Lower limb spasticity	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040281 - Very frequent	183
HP:0002061	HP:0002061	Lower limb spasticity	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0002061	HP:0002061	Lower limb spasticity	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0002061	HP:0002061	Lower limb spasticity	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0002061	HP:0002061	Lower limb spasticity	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0002061	HP:0002061	Lower limb spasticity	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0002061	HP:0002061	Lower limb spasticity	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002061	HP:0002061	Lower limb spasticity	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0002061	HP:0002061	Lower limb spasticity	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002061	HP:0002061	Lower limb spasticity	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0002061	HP:0002061	Lower limb spasticity	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002061	HP:0002061	Lower limb spasticity	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0002061	HP:0002061	Lower limb spasticity	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0002061	HP:0002061	Lower limb spasticity	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002061	HP:0002061	Lower limb spasticity	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0002061	HP:0002061	Lower limb spasticity	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0002061	HP:0002061	Lower limb spasticity	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3		163
HP:0002061	HP:0002061	Lower limb spasticity	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0002061	HP:0002061	Lower limb spasticity	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0002061	HP:0002061	Lower limb spasticity	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0002061	HP:0002061	Lower limb spasticity	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0002061	HP:0002061	Lower limb spasticity	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0002061	HP:0002061	Lower limb spasticity	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0002061	HP:0002061	Lower limb spasticity	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0002061	HP:0002061	Lower limb spasticity	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0002061	HP:0002061	Lower limb spasticity	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0002061	HP:0002061	Lower limb spasticity	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0002061	HP:0002061	Lower limb spasticity	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002061	HP:0002061	Lower limb spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0002061	HP:0002061	Lower limb spasticity	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002061	HP:0002061	Lower limb spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0002061	HP:0002061	Lower limb spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent	60
HP:0002061	HP:0002061	Lower limb spasticity	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0002061	HP:0002061	Lower limb spasticity	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0002061	HP:0002061	Lower limb spasticity	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0002061	HP:0002061	Lower limb spasticity	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0002061	HP:0002061	Lower limb spasticity	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0002061	HP:0002061	Lower limb spasticity	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0002061	HP:0002061	Lower limb spasticity	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002061	HP:0002061	Lower limb spasticity	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0002061	HP:0002061	Lower limb spasticity	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare	94
HP:0002061	HP:0002061	Lower limb spasticity	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0002061	HP:0002061	Lower limb spasticity	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0002061	HP:0002061	Lower limb spasticity	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002061	HP:0002061	Lower limb spasticity	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0002061	HP:0002061	Lower limb spasticity	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0002061	HP:0002061	Lower limb spasticity	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0002061	HP:0002061	Lower limb spasticity	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0002061	HP:0002061	Lower limb spasticity	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0002061	HP:0002061	Lower limb spasticity	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0002061	HP:0002061	Lower limb spasticity	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0002061	HP:0002061	Lower limb spasticity	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0002061	HP:0002061	Lower limb spasticity	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0002061	HP:0002061	Lower limb spasticity	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0002061	HP:0002061	Lower limb 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:0002061	HP:0002061	Lower limb spasticity	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002061	HP:0002061	Lower limb spasticity	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0002061	HP:0002061	Lower limb spasticity	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002061	HP:0002061	Lower limb spasticity	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0002061	HP:0002061	Lower limb spasticity	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0002061	HP:0002061	Lower limb spasticity	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002061	HP:0002061	Lower limb spasticity	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002061	HP:0002061	Lower limb spasticity	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0002061	HP:0002061	Lower limb spasticity	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0002061	HP:0002061	Lower limb spasticity	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0002061	HP:0002061	Lower limb spasticity	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0002061	HP:0002061	Lower limb spasticity	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0002061	HP:0002061	Lower limb spasticity	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002061	HP:0002061	Lower limb spasticity	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002061	HP:0002061	Lower limb spasticity	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4		162
HP:0002061	HP:0002061	Lower limb spasticity	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent	4
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity		255
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040284 - Very rare	255
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0002061	HP:0002061	Lower limb spasticity	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0002061	HP:0002061	Lower limb spasticity	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0002061	HP:0002061	Lower limb spasticity	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0002061	HP:0002061	Lower limb spasticity	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0002061	HP:0002061	Lower limb spasticity	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0002061	HP:0002061	Lower limb spasticity	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0002061	HP:0002061	Lower limb spasticity	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002061	HP:0002061	Lower limb spasticity	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	287
HP:0002061	HP:0002061	Lower limb spasticity	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002061	HP:0002061	Lower limb spasticity	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0002061	HP:0002061	Lower limb spasticity	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0002061	HP:0002061	Lower limb spasticity	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002061	HP:0002061	Lower limb spasticity	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	54
HP:0002061	HP:0002061	Lower limb spasticity	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0002061	HP:0002061	Lower limb spasticity	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0002061	HP:0002061	Lower limb spasticity	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0002061	HP:0002061	Lower limb spasticity	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0002061	HP:0002061	Lower limb spasticity	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent	1129
HP:0002061	HP:0002061	Lower limb spasticity	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0002061	HP:0002061	Lower limb 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:0002061	HP:0002061	Lower limb spasticity	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0002061	HP:0002061	Lower limb spasticity	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0002061	HP:0002061	Lower limb spasticity	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0002061	HP:0002061	Lower limb spasticity	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0002061	HP:0002061	Lower limb spasticity	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0002061	HP:0002061	Lower limb spasticity	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0002061	HP:0002061	Lower limb spasticity	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0002061	HP:0002061	Lower limb spasticity	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0002061	HP:0002061	Lower limb spasticity	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0002061	HP:0002061	Lower limb spasticity	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0002061	HP:0002061	Lower limb spasticity	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0002061	HP:0002061	Lower limb spasticity	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0002061	HP:0002061	Lower limb spasticity	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS		1
HP:0002061	HP:0002061	Lower limb spasticity	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002061	HP:0002061	Lower limb spasticity	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent	7
HP:0002061	HP:0002061	Lower limb spasticity	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040281 - Very frequent	2
HP:0002061	HP:0002061	Lower limb spasticity	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0002061	HP:0002061	Lower limb spasticity	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0002061	HP:0002061	Lower limb spasticity	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0002061	HP:0002061	Lower limb spasticity	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0002061	HP:0002061	Lower limb spasticity	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002061	HP:0002061	Lower limb spasticity	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0002061	HP:0002061	Lower limb spasticity	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0002061	HP:0002061	Lower limb spasticity	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0002061	HP:0002061	Lower limb spasticity	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0002061	HP:0002061	Lower limb spasticity	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0002061	HP:0002061	Lower limb 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:0002061	HP:0002061	Lower limb spasticity	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0002061	HP:0002061	Lower limb spasticity	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0002061	HP:0002061	Lower limb spasticity	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0002061	HP:0002061	Lower limb spasticity	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0002061	HP:0002061	Lower limb spasticity	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0002061	HP:0002061	Lower limb spasticity	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0002061	HP:0001258	Spastic paraplegia	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0002061	HP:0002313	Spastic paraparesis	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0002061	HP:0001258	Spastic paraplegia	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002061	HP:0002313	Spastic paraparesis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0002061	HP:0002313	Spastic paraparesis	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0002061	HP:0002313	Spastic paraparesis	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0002061	HP:0001258	Spastic paraplegia	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0002061	HP:0002313	Spastic paraparesis	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0002061	HP:0001258	Spastic paraplegia	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0002061	HP:0001258	Spastic paraplegia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0002061	HP:0002313	Spastic paraparesis	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0002061	HP:0001258	Spastic paraplegia	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0002061	HP:0001258	Spastic paraplegia	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0002061	HP:0001258	Spastic paraplegia	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0002061	HP:0001258	Spastic paraplegia	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0002061	HP:0001258	Spastic paraplegia	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0002061	HP:0001258	Spastic paraplegia	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0002061	HP:0002313	Spastic paraparesis	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002061	HP:0001258	Spastic paraplegia	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0002061	HP:0001258	Spastic paraplegia	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0002061	HP:0001258	Spastic paraplegia	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0002061	HP:0001258	Spastic paraplegia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0002061	HP:0001258	Spastic paraplegia	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0002061	HP:0001258	Spastic paraplegia	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002061	HP:0001258	Spastic paraplegia	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0002061	HP:0001258	Spastic paraplegia	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0002061	HP:0002313	Spastic paraparesis	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0002061	HP:0001258	Spastic paraplegia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0002061	HP:0001258	Spastic paraplegia	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0002061	HP:0002313	Spastic paraparesis	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0002061	HP:0001258	Spastic paraplegia	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0002061	HP:0002313	Spastic paraparesis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0002061	HP:0002313	Spastic paraparesis	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040281 - Very frequent	114
HP:0002061	HP:0002313	Spastic paraparesis	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0002061	HP:0001258	Spastic paraplegia	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0002061	HP:0001258	Spastic paraplegia	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0002061	HP:0001258	Spastic paraplegia	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0002061	HP:0002313	Spastic paraparesis	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0002061	HP:0002313	Spastic paraparesis	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0002061	HP:0001258	Spastic paraplegia	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0002061	HP:0001258	Spastic paraplegia	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0002061	HP:0002313	Spastic paraparesis	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0002061	HP:0002313	Spastic paraparesis	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0002061	HP:0001258	Spastic paraplegia	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0002061	HP:0002313	Spastic paraparesis	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0002061	HP:0001258	Spastic paraplegia	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0002061	HP:0001258	Spastic paraplegia	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0002061	HP:0002313	Spastic paraparesis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040284 - Very rare	114
HP:0002061	HP:0001258	Spastic paraplegia	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional	18
HP:0002061	HP:0001258	Spastic paraplegia	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0002061	HP:0001258	Spastic paraplegia	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0002061	HP:0001258	Spastic paraplegia	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0002061	HP:0001258	Spastic paraplegia	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0002061	HP:0001258	Spastic paraplegia	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040281 - Very frequent	29
HP:0002061	HP:0001258	Spastic paraplegia	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0002061	HP:0001258	Spastic paraplegia	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0002061	HP:0001258	Spastic paraplegia	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0002061	HP:0001258	Spastic paraplegia	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0002061	HP:0001258	Spastic paraplegia	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0002061	HP:0002313	Spastic paraparesis	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0002061	HP:0001258	Spastic paraplegia	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0002061	HP:0001258	Spastic paraplegia	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0002061	HP:0001258	Spastic paraplegia	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0002061	HP:0001258	Spastic paraplegia	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0002061	HP:0002313	Spastic paraparesis	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0002061	HP:0001258	Spastic paraplegia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0002061	HP:0001258	Spastic paraplegia	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0002061	HP:0002313	Spastic paraparesis	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0002061	HP:0001258	Spastic paraplegia	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0002061	HP:0001258	Spastic paraplegia	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0002061	HP:0001258	Spastic paraplegia	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0002061	HP:0001258	Spastic paraplegia	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0002061	HP:0002313	Spastic paraparesis	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0002061	HP:0002313	Spastic paraparesis	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0002061	HP:0001258	Spastic paraplegia	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0002061	HP:0002313	Spastic paraparesis	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0002061	HP:0001258	Spastic paraplegia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002061	HP:0001258	Spastic paraplegia	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0002061	HP:0001258	Spastic paraplegia	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0002061	HP:0002313	Spastic paraparesis	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0002061	HP:0002313	Spastic paraparesis	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0002061	HP:0002313	Spastic paraparesis	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0002061	HP:0001258	Spastic paraplegia	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0002061	HP:0002313	Spastic paraparesis	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002061	HP:0001258	Spastic paraplegia	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0002061	HP:0001258	Spastic paraplegia	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0002061	HP:0001258	Spastic paraplegia	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002061	HP:0001258	Spastic paraplegia	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0002061	HP:0001258	Spastic paraplegia	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040281 - Very frequent	46
HP:0002061	HP:0001258	Spastic paraplegia	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0002061	HP:0001258	Spastic paraplegia	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0002061	HP:0001258	Spastic paraplegia	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0002061	HP:0002313	Spastic paraparesis	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0002061	HP:0002313	Spastic paraparesis	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional	115
HP:0002061	HP:0002313	Spastic paraparesis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0002061	HP:0001258	Spastic paraplegia	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002061	HP:0001258	Spastic paraplegia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002061	HP:0001258	Spastic paraplegia	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002061	HP:0001258	Spastic paraplegia	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0002061	HP:0001258	Spastic paraplegia	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0002061	HP:0001258	Spastic paraplegia	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0002061	HP:0001258	Spastic paraplegia	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002061	HP:0001258	Spastic paraplegia	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0002061	HP:0001258	Spastic paraplegia	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0002061	HP:0001258	Spastic paraplegia	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002061	HP:0001258	Spastic paraplegia	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0002061	HP:0001258	Spastic paraplegia	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0002061	HP:0001258	Spastic paraplegia	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent	134
HP:0002061	HP:0001258	Spastic paraplegia	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0002061	HP:0001258	Spastic paraplegia	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040281 - Very frequent	134
HP:0002061	HP:0001258	Spastic paraplegia	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0002061	HP:0001258	Spastic paraplegia	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0002061	HP:0002313	Spastic paraparesis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002061	HP:0001258	Spastic paraplegia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0002061	HP:0001258	Spastic paraplegia	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0002061	HP:0002313	Spastic paraparesis	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0002061	HP:0001258	Spastic paraplegia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0002061	HP:0001258	Spastic paraplegia	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0002061	HP:0001258	Spastic paraplegia	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002061	HP:0002313	Spastic paraparesis	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0002061	HP:0002313	Spastic paraparesis	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0002061	HP:0001258	Spastic paraplegia	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0002061	HP:0002313	Spastic paraparesis	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent	183
HP:0002061	HP:0002313	Spastic paraparesis	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent	19
HP:0002061	HP:0002313	Spastic paraparesis	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0002061	HP:0002313	Spastic paraparesis	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0002061	HP:0002313	Spastic paraparesis	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0002061	HP:0001258	Spastic paraplegia	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0002061	HP:0001258	Spastic paraplegia	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0002061	HP:0001258	Spastic paraplegia	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0002061	HP:0001258	Spastic paraplegia	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002061	HP:0001258	Spastic paraplegia	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0002061	HP:0001258	Spastic paraplegia	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0002061	HP:0001258	Spastic paraplegia	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0002061	HP:0001258	Spastic paraplegia	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0002061	HP:0002313	Spastic paraparesis	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent	163
HP:0002061	HP:0001258	Spastic paraplegia	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0002061	HP:0001258	Spastic paraplegia	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0002061	HP:0001258	Spastic paraplegia	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0002061	HP:0001258	Spastic paraplegia	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0002061	HP:0001258	Spastic paraplegia	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0002061	HP:0002313	Spastic paraparesis	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0002061	HP:0001258	Spastic paraplegia	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0002061	HP:0001258	Spastic paraplegia	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0002061	HP:0001258	Spastic paraplegia	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0002061	HP:0001258	Spastic paraplegia	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0002061	HP:0001258	Spastic paraplegia	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002061	HP:0002313	Spastic paraparesis	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0002061	HP:0001258	Spastic paraplegia	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0002061	HP:0002313	Spastic paraparesis	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0002061	HP:0001258	Spastic paraplegia	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0002061	HP:0001258	Spastic paraplegia	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0002061	HP:0001258	Spastic paraplegia	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0002061	HP:0002313	Spastic paraparesis	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0002061	HP:0002313	Spastic paraparesis	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002061	HP:0002313	Spastic paraparesis	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0002061	HP:0002313	Spastic paraparesis	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0002061	HP:0001258	Spastic paraplegia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0002061	HP:0001258	Spastic paraplegia	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0002061	HP:0001258	Spastic paraplegia	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0002061	HP:0002313	Spastic paraparesis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0002061	HP:0002313	Spastic paraparesis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0002061	HP:0001258	Spastic paraplegia	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	HP:0040283 - Occasional	34
HP:0002061	HP:0002313	Spastic paraparesis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0002061	HP:0001258	Spastic paraplegia	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0002061	HP:0001258	Spastic paraplegia	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0002061	HP:0002313	Spastic paraparesis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002061	HP:0001258	Spastic paraplegia	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0002061	HP:0001258	Spastic paraplegia	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002061	HP:0002313	Spastic paraparesis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0002061	HP:0002313	Spastic paraparesis	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0002061	HP:0001258	Spastic paraplegia	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0002061	HP:0002313	Spastic paraparesis	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0002061	HP:0002313	Spastic paraparesis	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0002061	HP:0002313	Spastic paraparesis	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0002061	HP:0002313	Spastic paraparesis	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002061	HP:0001258	Spastic paraplegia	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002061	HP:0001258	Spastic paraplegia	1	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040283 - Occasional	162
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0002061	HP:0002313	Spastic paraparesis	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent	255
HP:0002061	HP:0002313	Spastic paraparesis	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0002061	HP:0002313	Spastic paraparesis	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0002061	HP:0001258	Spastic paraplegia	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0002061	HP:0002313	Spastic paraparesis	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0002061	HP:0002313	Spastic paraparesis	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0002061	HP:0001258	Spastic paraplegia	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0002061	HP:0002313	Spastic paraparesis	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0002061	HP:0001258	Spastic paraplegia	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0002061	HP:0001258	Spastic paraplegia	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002061	HP:0001258	Spastic paraplegia	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0002061	HP:0002313	Spastic paraparesis	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0002061	HP:0002313	Spastic paraparesis	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0002061	HP:0001258	Spastic paraplegia	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002061	HP:0001258	Spastic paraplegia	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0002061	HP:0001258	Spastic paraplegia	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0002061	HP:0001258	Spastic paraplegia	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0002061	HP:0002313	Spastic paraparesis	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0002061	HP:0001258	Spastic paraplegia	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0002061	HP:0001258	Spastic paraplegia	1	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent	18
HP:0002061	HP:0001258	Spastic paraplegia	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0002061	HP:0001258	Spastic paraplegia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0002061	HP:0002313	Spastic paraparesis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0002061	HP:0002313	Spastic paraparesis	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0002061	HP:0002313	Spastic paraparesis	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0002061	HP:0001258	Spastic paraplegia	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002061	HP:0001258	Spastic paraplegia	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0002061	HP:0001258	Spastic paraplegia	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0002061	HP:0001258	Spastic paraplegia	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040281 - Very frequent	7
HP:0002061	HP:0001258	Spastic paraplegia	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0002061	HP:0001258	Spastic paraplegia	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0002061	HP:0001258	Spastic paraplegia	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0002061	HP:0001258	Spastic paraplegia	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0002061	HP:0001258	Spastic paraplegia	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0002061	HP:0001258	Spastic paraplegia	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0002061	HP:0002313	Spastic paraparesis	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0002061	HP:0002313	Spastic paraparesis	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0002061	HP:0001258	Spastic paraplegia	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0002061	HP:0001258	Spastic paraplegia	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0002061	HP:0001258	Spastic paraplegia	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0002061	HP:0001258	Spastic paraplegia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0002061	HP:0001258	Spastic paraplegia	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0002061	HP:0001258	Spastic paraplegia	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	49
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	48
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	41
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	18
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040281 - Very frequent	165
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent	76
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040280 - Obligate	36
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040281 - Very frequent	10
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040281 - Very frequent	16
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040282 - Frequent	60
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent	171
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0002061	HP:0007199	Progressive spastic paraparesis	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0002061	HP:0007020	Progressive spastic paraplegia	2	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1