Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

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

..Starting node
..Paraplegia/paraparesis (HP:0010551)

Term ID:

10551

Name:

Paraplegia/paraparesis

Synonym:

Definition:

Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.

Comments:

Reference:

HP:0010551

Genes and Diseases:

Child Nodes:

........

Paraparesis (HP:0002385)

................... HP:0002313 Spastic paraparesis

........

Paraplegia (HP:0010550)

................... HP:0001258 Spastic paraplegia

Sister Nodes:

Hemiplegia/hemiparesis (HP:0004374)

Tetraplegia/tetraparesis (HP:0030182)

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:0010551	HP:0010551	Paraplegia/paraparesis	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration		16
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome		134
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1		134
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45		15
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive		15
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3		163
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria		641
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39		103
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5		49
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4		162
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity		255
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59		7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0010551	HP:0010551	Paraplegia/paraparesis	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0010551	HP:0010550	Paraplegia	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0010551	HP:0002385	Paraparesis	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0010551	HP:0002385	Paraparesis	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010551	HP:0010550	Paraplegia	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0010551	HP:0002385	Paraparesis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0010551	HP:0002385	Paraparesis	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0010551	HP:0002385	Paraparesis	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0010551	HP:0002385	Paraparesis	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0010551	HP:0010550	Paraplegia	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0010551	HP:0002385	Paraparesis	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0010551	HP:0010550	Paraplegia	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0010551	HP:0010550	Paraplegia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0010551	HP:0002385	Paraparesis	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0010551	HP:0010550	Paraplegia	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0010551	HP:0010550	Paraplegia	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0010551	HP:0010550	Paraplegia	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0010551	HP:0010550	Paraplegia	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0010551	HP:0010550	Paraplegia	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0010551	HP:0010550	Paraplegia	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0010551	HP:0010550	Paraplegia	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0010551	HP:0010550	Paraplegia	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0010551	HP:0010550	Paraplegia	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0010551	HP:0010550	Paraplegia	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0010551	HP:0010550	Paraplegia	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0010551	HP:0010550	Paraplegia	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0010551	HP:0010550	Paraplegia	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0010551	HP:0010550	Paraplegia	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0010551	HP:0002385	Paraparesis	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0010551	HP:0010550	Paraplegia	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0010551	HP:0010550	Paraplegia	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0010551	HP:0002385	Paraparesis	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0010551	HP:0010550	Paraplegia	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0010551	HP:0010550	Paraplegia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0010551	HP:0002385	Paraparesis	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0010551	HP:0010550	Paraplegia	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0010551	HP:0010550	Paraplegia	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010551	HP:0010550	Paraplegia	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0010551	HP:0010550	Paraplegia	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0010551	HP:0002385	Paraparesis	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0010551	HP:0010550	Paraplegia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0010551	HP:0010550	Paraplegia	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0010551	HP:0010550	Paraplegia	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0010551	HP:0002385	Paraparesis	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010551	HP:0010550	Paraplegia	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0010551	HP:0002385	Paraparesis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0010551	HP:0002385	Paraparesis	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0010551	HP:0002385	Paraparesis	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0010551	HP:0010550	Paraplegia	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0010551	HP:0002385	Paraparesis	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0010551	HP:0002385	Paraparesis	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0010551	HP:0010550	Paraplegia	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0010551	HP:0010550	Paraplegia	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010551	HP:0010550	Paraplegia	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0010551	HP:0002385	Paraparesis	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0010551	HP:0002385	Paraparesis	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0010551	HP:0010550	Paraplegia	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0010551	HP:0010550	Paraplegia	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0010551	HP:0002385	Paraparesis	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0010551	HP:0010550	Paraplegia	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0010551	HP:0010550	Paraplegia	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0010551	HP:0002385	Paraparesis	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0010551	HP:0002385	Paraparesis	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration		16
HP:0010551	HP:0002385	Paraparesis	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0010551	HP:0010550	Paraplegia	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0010551	HP:0010550	Paraplegia	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010551	HP:0002385	Paraparesis	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010551	HP:0010550	Paraplegia	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0010551	HP:0002385	Paraparesis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0010551	HP:0010550	Paraplegia	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0010551	HP:0010550	Paraplegia	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0010551	HP:0010550	Paraplegia	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0010551	HP:0010550	Paraplegia	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0010551	HP:0010550	Paraplegia	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0010551	HP:0010550	Paraplegia	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0010551	HP:0010550	Paraplegia	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54		29
HP:0010551	HP:0010550	Paraplegia	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0010551	HP:0010550	Paraplegia	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0010551	HP:0010550	Paraplegia	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0010551	HP:0010550	Paraplegia	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0010551	HP:0010550	Paraplegia	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0010551	HP:0010550	Paraplegia	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0010551	HP:0002385	Paraparesis	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0010551	HP:0010550	Paraplegia	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0010551	HP:0010550	Paraplegia	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0010551	HP:0010550	Paraplegia	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0010551	HP:0010550	Paraplegia	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0010551	HP:0010550	Paraplegia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0010551	HP:0002385	Paraparesis	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0010551	HP:0010550	Paraplegia	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0010551	HP:0002385	Paraparesis	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0010551	HP:0010550	Paraplegia	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0010551	HP:0010550	Paraplegia	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0010551	HP:0010550	Paraplegia	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0010551	HP:0010550	Paraplegia	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0010551	HP:0010550	Paraplegia	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0010551	HP:0010550	Paraplegia	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0010551	HP:0010550	Paraplegia	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0010551	HP:0010550	Paraplegia	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0010551	HP:0010550	Paraplegia	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0010551	HP:0002385	Paraparesis	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0010551	HP:0002385	Paraparesis	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0010551	HP:0010550	Paraplegia	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0010551	HP:0002385	Paraparesis	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0010551	HP:0002385	Paraparesis	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0010551	HP:0002385	Paraparesis	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0010551	HP:0010550	Paraplegia	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0010551	HP:0002385	Paraparesis	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0010551	HP:0010550	Paraplegia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0010551	HP:0010550	Paraplegia	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0010551	HP:0010550	Paraplegia	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0010551	HP:0002385	Paraparesis	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010551	HP:0010550	Paraplegia	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0010551	HP:0002385	Paraparesis	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0010551	HP:0002385	Paraparesis	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0010551	HP:0002385	Paraparesis	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0010551	HP:0002385	Paraparesis	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0010551	HP:0010550	Paraplegia	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0010551	HP:0002385	Paraparesis	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0010551	HP:0010550	Paraplegia	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0010551	HP:0010550	Paraplegia	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0010551	HP:0010550	Paraplegia	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0010551	HP:0010550	Paraplegia	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0010551	HP:0010550	Paraplegia	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010551	HP:0010550	Paraplegia	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0010551	HP:0010550	Paraplegia	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0010551	HP:0010550	Paraplegia	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0010551	HP:0010550	Paraplegia	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0010551	HP:0010550	Paraplegia	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0010551	HP:0002385	Paraparesis	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0010551	HP:0002385	Paraparesis	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0010551	HP:0002385	Paraparesis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0010551	HP:0010550	Paraplegia	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0010551	HP:0010550	Paraplegia	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0010551	HP:0010550	Paraplegia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0010551	HP:0010550	Paraplegia	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0010551	HP:0010550	Paraplegia	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0010551	HP:0010550	Paraplegia	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0010551	HP:0010550	Paraplegia	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0010551	HP:0010550	Paraplegia	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0010551	HP:0010550	Paraplegia	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0010551	HP:0010550	Paraplegia	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0010551	HP:0010550	Paraplegia	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0010551	HP:0010550	Paraplegia	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0010551	HP:0010550	Paraplegia	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0010551	HP:0010550	Paraplegia	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome		134
HP:0010551	HP:0010550	Paraplegia	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0010551	HP:0010550	Paraplegia	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1		134
HP:0010551	HP:0010550	Paraplegia	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0010551	HP:0010550	Paraplegia	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0010551	HP:0002385	Paraparesis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0010551	HP:0010550	Paraplegia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0010551	HP:0010550	Paraplegia	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0010551	HP:0002385	Paraparesis	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0010551	HP:0010550	Paraplegia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0010551	HP:0010550	Paraplegia	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0010551	HP:0010550	Paraplegia	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0010551	HP:0002385	Paraparesis	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0010551	HP:0002385	Paraparesis	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0010551	HP:0010550	Paraplegia	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0010551	HP:0002385	Paraparesis	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0010551	HP:0002385	Paraparesis	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0010551	HP:0002385	Paraparesis	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0010551	HP:0002385	Paraparesis	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0010551	HP:0002385	Paraparesis	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0010551	HP:0010550	Paraplegia	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0010551	HP:0010550	Paraplegia	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0010551	HP:0010550	Paraplegia	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0010551	HP:0010550	Paraplegia	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0010551	HP:0010550	Paraplegia	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0010551	HP:0010550	Paraplegia	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0010551	HP:0010550	Paraplegia	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0010551	HP:0010550	Paraplegia	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0010551	HP:0010550	Paraplegia	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0010550	Paraplegia	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0010551	HP:0010550	Paraplegia	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0010551	HP:0010550	Paraplegia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0010551	HP:0010550	Paraplegia	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0010551	HP:0010550	Paraplegia	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0010551	HP:0010550	Paraplegia	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0010551	HP:0010550	Paraplegia	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0010550	Paraplegia	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0010551	HP:0010550	Paraplegia	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0010551	HP:0010550	Paraplegia	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0010551	HP:0010550	Paraplegia	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0002385	Paraparesis	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0010551	HP:0010550	Paraplegia	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0010551	HP:0010550	Paraplegia	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0010551	HP:0010550	Paraplegia	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0010551	HP:0010550	Paraplegia	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45		15
HP:0010551	HP:0010550	Paraplegia	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive		15
HP:0010551	HP:0010550	Paraplegia	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0010551	HP:0010550	Paraplegia	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0010551	HP:0002385	Paraparesis	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3		163
HP:0010551	HP:0010550	Paraplegia	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional	641
HP:0010551	HP:0010550	Paraplegia	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0010551	HP:0010550	Paraplegia	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0010551	HP:0010550	Paraplegia	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0010551	HP:0010550	Paraplegia	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0010551	HP:0010550	Paraplegia	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0010551	HP:0002385	Paraparesis	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0010551	HP:0010550	Paraplegia	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0010551	HP:0010550	Paraplegia	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0010551	HP:0002385	Paraparesis	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0010551	HP:0010550	Paraplegia	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010551	HP:0010550	Paraplegia	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0010551	HP:0010550	Paraplegia	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010551	HP:0002385	Paraparesis	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0010551	HP:0010550	Paraplegia	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0010551	HP:0002385	Paraparesis	1	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency		52
HP:0010551	HP:0010550	Paraplegia	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39		103
HP:0010551	HP:0010550	Paraplegia	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome		103
HP:0010551	HP:0010550	Paraplegia	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0010551	HP:0002385	Paraparesis	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0010551	HP:0002385	Paraparesis	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010551	HP:0002385	Paraparesis	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0010551	HP:0010550	Paraplegia	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0010551	HP:0010550	Paraplegia	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0010551	HP:0002385	Paraparesis	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional	49
HP:0010551	HP:0002385	Paraparesis	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0010551	HP:0010550	Paraplegia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0010551	HP:0010550	Paraplegia	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040284 - Very rare	88
HP:0010551	HP:0010550	Paraplegia	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0010551	HP:0010550	Paraplegia	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0010551	HP:0002385	Paraparesis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0010551	HP:0002385	Paraparesis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0010551	HP:0010550	Paraplegia	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0010551	HP:0002385	Paraparesis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0010551	HP:0010550	Paraplegia	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010551	HP:0010550	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:0010551	HP:0002385	Paraparesis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0010551	HP:0010550	Paraplegia	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0010551	HP:0010550	Paraplegia	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0010551	HP:0010550	Paraplegia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional	8
HP:0010551	HP:0002385	Paraparesis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0010551	HP:0002385	Paraparesis	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0010551	HP:0010550	Paraplegia	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0010551	HP:0002385	Paraparesis	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0010551	HP:0002385	Paraparesis	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0010551	HP:0002385	Paraparesis	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0010551	HP:0010550	Paraplegia	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0010551	HP:0002385	Paraparesis	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0010551	HP:0010550	Paraplegia	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0010551	HP:0010550	Paraplegia	1	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4		162
HP:0010551	HP:0010550	Paraplegia	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0010551	HP:0010550	Paraplegia	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0010551	HP:0002385	Paraparesis	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.	110
HP:0010551	HP:0010550	Paraplegia	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0010551	HP:0002385	Paraparesis	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0010551	HP:0010550	Paraplegia	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0010551	HP:0010550	Paraplegia	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010551	HP:0010550	Paraplegia	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity		255
HP:0010551	HP:0002385	Paraparesis	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0010551	HP:0002385	Paraparesis	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010551	HP:0010550	Paraplegia	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0010551	HP:0010550	Paraplegia	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0010551	HP:0010550	Paraplegia	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0010551	HP:0002385	Paraparesis	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0010551	HP:0002385	Paraparesis	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0010551	HP:0010550	Paraplegia	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0010551	HP:0002385	Paraparesis	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010551	HP:0002385	Paraparesis	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0010551	HP:0010550	Paraplegia	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0010551	HP:0010550	Paraplegia	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0010551	HP:0002385	Paraparesis	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent	287
HP:0010551	HP:0010550	Paraplegia	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0010551	HP:0002385	Paraparesis	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0010551	HP:0010550	Paraplegia	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0010551	HP:0002385	Paraparesis	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0010551	HP:0010550	Paraplegia	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0010551	HP:0010550	Paraplegia	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0010551	HP:0002385	Paraparesis	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0010551	HP:0002385	Paraparesis	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0010551	HP:0010550	Paraplegia	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0010551	HP:0010550	Paraplegia	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0010551	HP:0010550	Paraplegia	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0010551	HP:0010550	Paraplegia	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0010551	HP:0002385	Paraparesis	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0010551	HP:0002385	Paraparesis	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0010551	HP:0002385	Paraparesis	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0010551	HP:0010550	Paraplegia	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0010551	HP:0010550	Paraplegia	1	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0010551	HP:0010550	Paraplegia	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0010551	HP:0002385	Paraparesis	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0010551	HP:0010550	Paraplegia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0010551	HP:0002385	Paraparesis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0010551	HP:0002385	Paraparesis	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0010551	HP:0002385	Paraparesis	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0010551	HP:0010550	Paraplegia	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0010551	HP:0010550	Paraplegia	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0010551	HP:0010550	Paraplegia	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0010551	HP:0010550	Paraplegia	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0010551	HP:0010550	Paraplegia	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59		7
HP:0010551	HP:0010550	Paraplegia	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0010551	HP:0010550	Paraplegia	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0010551	HP:0002385	Paraparesis	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0010551	HP:0010550	Paraplegia	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0010551	HP:0010550	Paraplegia	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0010551	HP:0010550	Paraplegia	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0010551	HP:0010550	Paraplegia	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0010551	HP:0010550	Paraplegia	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	10
HP:0010551	HP:0002385	Paraparesis	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0010551	HP:0002385	Paraparesis	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5		51
HP:0010551	HP:0010550	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:0010551	HP:0010550	Paraplegia	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60		1
HP:0010551	HP:0010550	Paraplegia	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0010551	HP:0010550	Paraplegia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0010551	HP:0010550	Paraplegia	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0010551	HP:0010550	Paraplegia	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0010551	HP:0001258	Spastic paraplegia	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0010551	HP:0002313	Spastic paraparesis	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0010551	HP:0001258	Spastic paraplegia	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0010551	HP:0002313	Spastic paraparesis	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0010551	HP:0001258	Spastic paraplegia	2	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0010551	HP:0002313	Spastic paraparesis	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0010551	HP:0001258	Spastic paraplegia	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0010551	HP:0001258	Spastic paraplegia	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0010551	HP:0002313	Spastic paraparesis	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0010551	HP:0001258	Spastic paraplegia	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0010551	HP:0001258	Spastic paraplegia	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0010551	HP:0001258	Spastic paraplegia	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0010551	HP:0001258	Spastic paraplegia	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0010551	HP:0002313	Spastic paraparesis	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0010551	HP:0001258	Spastic paraplegia	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0010551	HP:0001258	Spastic paraplegia	2	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0010551	HP:0001258	Spastic paraplegia	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0010551	HP:0001258	Spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0010551	HP:0001258	Spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0010551	HP:0001258	Spastic paraplegia	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0010551	HP:0001258	Spastic paraplegia	2	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0010551	HP:0001258	Spastic paraplegia	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0010551	HP:0002313	Spastic paraparesis	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0010551	HP:0002313	Spastic paraparesis	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0010551	HP:0001258	Spastic paraplegia	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0010551	HP:0002313	Spastic paraparesis	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0010551	HP:0001258	Spastic paraplegia	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0010551	HP:0002313	Spastic paraparesis	2	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0010551	HP:0002313	Spastic paraparesis	2	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0010551	HP:0002313	Spastic paraparesis	2	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0010551	HP:0002313	Spastic paraparesis	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0010551	HP:0001258	Spastic paraplegia	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0010551	HP:0001258	Spastic paraplegia	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010551	HP:0002313	Spastic paraparesis	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0010551	HP:0001258	Spastic paraplegia	2	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0010551	HP:0002313	Spastic paraparesis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040284 - Very rare	114
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0010551	HP:0001258	Spastic paraplegia	2	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0010551	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:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0010551	HP:0001258	Spastic paraplegia	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0010551	HP:0002313	Spastic paraparesis	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0010551	HP:0001258	Spastic paraplegia	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0010551	HP:0001258	Spastic paraplegia	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0010551	HP:0001258	Spastic paraplegia	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0010551	HP:0002313	Spastic paraparesis	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0010551	HP:0001258	Spastic paraplegia	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0010551	HP:0002313	Spastic paraparesis	2	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0010551	HP:0001258	Spastic paraplegia	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0010551	HP:0001258	Spastic paraplegia	2	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0010551	HP:0001258	Spastic paraplegia	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0010551	HP:0001258	Spastic paraplegia	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0010551	HP:0002313	Spastic paraparesis	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0010551	HP:0002313	Spastic paraparesis	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0010551	HP:0001258	Spastic paraplegia	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0010551	HP:0002313	Spastic paraparesis	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0010551	HP:0001258	Spastic paraplegia	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0010551	HP:0001258	Spastic paraplegia	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0010551	HP:0001258	Spastic paraplegia	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0010551	HP:0002313	Spastic paraparesis	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0010551	HP:0002313	Spastic paraparesis	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0010551	HP:0002313	Spastic paraparesis	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0010551	HP:0001258	Spastic paraplegia	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0010551	HP:0002313	Spastic paraparesis	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0010551	HP:0001258	Spastic paraplegia	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0010551	HP:0001258	Spastic paraplegia	2	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0010551	HP:0002313	Spastic paraparesis	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0010551	HP:0002313	Spastic paraparesis	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040283 - Occasional	115
HP:0010551	HP:0002313	Spastic paraparesis	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0010551	HP:0001258	Spastic paraplegia	2	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0010551	HP:0001258	Spastic paraplegia	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0010551	HP:0001258	Spastic paraplegia	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0010551	HP:0001258	Spastic paraplegia	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0010551	HP:0001258	Spastic paraplegia	2	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0010551	HP:0001258	Spastic paraplegia	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0010551	HP:0001258	Spastic paraplegia	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0010551	HP:0001258	Spastic paraplegia	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0010551	HP:0001258	Spastic paraplegia	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0010551	HP:0001258	Spastic paraplegia	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0010551	HP:0001258	Spastic paraplegia	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent	134
HP:0010551	HP:0001258	Spastic paraplegia	2	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0010551	HP:0001258	Spastic paraplegia	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0010551	HP:0002313	Spastic paraparesis	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0010551	HP:0001258	Spastic paraplegia	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0010551	HP:0001258	Spastic paraplegia	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0010551	HP:0001258	Spastic paraplegia	2	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0010551	HP:0001258	Spastic paraplegia	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0010551	HP:0001258	Spastic paraplegia	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0010551	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:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0010551	HP:0002313	Spastic paraparesis	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0010551	HP:0002313	Spastic paraparesis	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0010551	HP:0001258	Spastic paraplegia	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0010551	HP:0001258	Spastic paraplegia	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0010551	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:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent	163
HP:0010551	HP:0001258	Spastic paraplegia	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0010551	HP:0001258	Spastic paraplegia	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0010551	HP:0001258	Spastic paraplegia	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0010551	HP:0001258	Spastic paraplegia	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0010551	HP:0001258	Spastic paraplegia	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0010551	HP:0002313	Spastic paraparesis	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0010551	HP:0001258	Spastic paraplegia	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0010551	HP:0001258	Spastic paraplegia	2	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0010551	HP:0001258	Spastic paraplegia	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0010551	HP:0001258	Spastic paraplegia	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0010551	HP:0001258	Spastic paraplegia	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0010551	HP:0002313	Spastic paraparesis	2	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040283 - Occasional	52
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0010551	HP:0001258	Spastic paraplegia	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0010551	HP:0002313	Spastic paraparesis	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0010551	HP:0002313	Spastic paraparesis	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0010551	HP:0001258	Spastic paraplegia	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0010551	HP:0001258	Spastic paraplegia	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0010551	HP:0001258	Spastic paraplegia	2	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0010551	HP:0002313	Spastic paraparesis	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0010551	HP:0002313	Spastic paraparesis	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0010551	HP:0001258	Spastic paraplegia	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	HP:0040283 - Occasional	34
HP:0010551	HP:0002313	Spastic paraparesis	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0010551	HP:0001258	Spastic paraplegia	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0010551	HP:0001258	Spastic paraplegia	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0010551	HP:0001258	Spastic paraplegia	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0010551	HP:0002313	Spastic paraparesis	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0010551	HP:0002313	Spastic paraparesis	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0010551	HP:0001258	Spastic paraplegia	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0010551	HP:0002313	Spastic paraparesis	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0010551	HP:0002313	Spastic paraparesis	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0010551	HP:0002313	Spastic paraparesis	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0010551	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:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040283 - Occasional	162
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0010551	HP:0002313	Spastic paraparesis	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0010551	HP:0002313	Spastic paraparesis	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0010551	HP:0001258	Spastic paraplegia	2	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0010551	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:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0010551	HP:0001258	Spastic paraplegia	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0010551	HP:0001258	Spastic paraplegia	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0010551	HP:0001258	Spastic paraplegia	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0010551	HP:0002313	Spastic paraparesis	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0010551	HP:0001258	Spastic paraplegia	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0010551	HP:0002313	Spastic paraparesis	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0010551	HP:0001258	Spastic paraplegia	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0010551	HP:0001258	Spastic paraplegia	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0010551	HP:0001258	Spastic paraplegia	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0010551	HP:0001258	Spastic paraplegia	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0010551	HP:0001258	Spastic paraplegia	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0010551	HP:0002313	Spastic paraparesis	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0010551	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:0010551	HP:0002313	Spastic paraparesis	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0010551	HP:0001258	Spastic paraplegia	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0010551	HP:0001258	Spastic paraplegia	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0010551	HP:0001258	Spastic paraplegia	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0010551	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:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0010551	HP:0001258	Spastic paraplegia	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0010551	HP:0001258	Spastic paraplegia	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0010551	HP:0002313	Spastic paraparesis	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0010551	HP:0002313	Spastic paraparesis	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0010551	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:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0010551	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:0010551	HP:0001258	Spastic paraplegia	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0010551	HP:0001258	Spastic paraplegia	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0010551	HP:0007199	Progressive spastic paraparesis	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0010551	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:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0010551	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:0010551	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:0010551	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:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0010551	HP:0007199	Progressive spastic paraparesis	3	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040282 - Frequent	60
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0010551	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:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0010551	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:0010551	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:0010551	HP:0007020	Progressive spastic paraplegia	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0010551	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:0010551	HP:0007199	Progressive spastic paraparesis	3	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent	171
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0010551	HP:0007020	Progressive spastic paraplegia	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0010551	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:0010551	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:0010551	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:0010551	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 (234) :ABCD1 ABHD16A ADAR ADGRG1 AFG3L2 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALS2 AMPD2 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARG1 ARL6IP1 ARSI ASAH1 ATL1 ATP13A2 ATP5MC3 ATP6 ATP6AP2 ATRX B3GALT6 B4GALNT1 BCOR BSCL2 BTD C19ORF12 C9ORF72 CACNA1D CAPN1 CARS1 CCDC141 CCDC88C CCT5 CHCHD10 CHD7 CKAP2L CLTC COASY COX15 CPT1C CYP27A1 CYP2U1 CYP7B1 DCC DDHD1 DDHD2 DNM1L DSTYK DUSP6 ECHS1 EDNRB ELOVL1 ENTPD1 ERCC2 ERCC3 ERLIN2 FA2H FAR1 FARS2 FEZF1 FGF17 FGF8 FGFR1 FLRT1 FLRT3 FOXRED1 FUS FUZ GALC GAMT GAN GBA1 GBA2 GBE1 GFAP GIPC1 GJA1 GJB1 GJC2 GOT2 GPT2 GTF2E2 GTF2H5 HACE1 HESX1 HPDL HS6ST1 HSPD1 IBA57 IDUA IFIH1 IL17RD INTS8 KDM5C KIDINS220 KIF1A KIF5A KLC2 KPNA3 KY L1CAM LAMB1 LIPT1 LSM11 LYST MAG MAN2B1 MARS1 MECP2 MED13L MICOS13 MPLKIP MTFMT MTHFR MTPAP MTRFR NAGS NDNF NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NF1 NIPA1 NOTCH2NLC NT5C2 OPA1 OPA3 PAH PAX3 PDHA1 PDHX PET100 PEX16 PEX3 PGAP1 PI4KA PLP1 PNP PNPLA6 POLG POLR3GL PPP1R15B PROK2 PROKR2 PRPS1 PRUNE1 RAB3GAP2 RASA1 REEP1 REEP2 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF170 RNF220 RNU7-1 RTN2 SAMD9 SAMHD1 SDHA SDHAF1 SDHB SDHD SELENOI SEMA3A SETX SLC16A2 SLC19A3 SLC25A15 SLC2A1 SLC30A10 SLC33A1 SOX10 SP110 SPART SPAST SPG11 SPG21 SPG7 SPRY4 SQSTM1 SRPX2 STXBP1 SURF1 TACO1 TACR3 TARDBP TARS1 TBCE TBK1 TECPR2 TFG TNFRSF11A TOE1 TREX1 TRMT10A TTC19 TTR UBAP1 UCHL1 USP8 VAMP1 VCP VPS37A WASHC5 WDR11 WDR45 WDR45B WDR48 ZFR ZFYVE26 ZFYVE27

Diseases (225) :OMIM:300100 ORPHA:139399 OMIM:619735 ORPHA:51 ORPHA:98889 ORPHA:313772 OMIM:614487 ORPHA:83629 OMIM:260600 OMIM:601162 OMIM:616586 OMIM:270200 ORPHA:293168 OMIM:607225 OMIM:615686 ORPHA:478 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:613647 OMIM:207800 OMIM:615685 ORPHA:401815 ORPHA:333 OMIM:182600 ORPHA:513436 OMIM:606693 OMIM:617225 OMIM:619681 ORPHA:320360 ORPHA:363654 ORPHA:847 OMIM:271640 OMIM:609195 OMIM:300166 OMIM:270685 ORPHA:79241 ORPHA:320370 ORPHA:289560 OMIM:615043 OMIM:105550 ORPHA:275872 ORPHA:369929 OMIM:616907 ORPHA:33364 OMIM:616053 ORPHA:423275 ORPHA:139578 OMIM:256840 ORPHA:3255 OMIM:617854 ORPHA:397725 OMIM:615643 ORPHA:255241 ORPHA:444099 OMIM:616282 ORPHA:909 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 OMIM:609340 ORPHA:320380 OMIM:615033 ORPHA:98673 ORPHA:101003 OMIM:270750 OMIM:277580 OMIM:618527 OMIM:615683 OMIM:611225 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:619338 ORPHA:466722 OMIM:617046 ORPHA:320406 ORPHA:1136 ORPHA:206448 ORPHA:206443 OMIM:612736 OMIM:256850 OMIM:231000 ORPHA:2072 OMIM:614409 OMIM:263570 ORPHA:363722 ORPHA:98897 ORPHA:2710 OMIM:164200 OMIM:302800 OMIM:608804 OMIM:613206 OMIM:618721 ORPHA:477673 ORPHA:464282 OMIM:619026 OMIM:619027 ORPHA:100994 OMIM:605280 ORPHA:468661 OMIM:616451 ORPHA:93473 ORPHA:93474 OMIM:618572 OMIM:300534 OMIM:617296 ORPHA:521390 ORPHA:101010 OMIM:610357 OMIM:604187 OMIM:609541 ORPHA:171612 ORPHA:496689 OMIM:307000 ORPHA:2466 OMIM:303350 ORPHA:306617 OMIM:615191 ORPHA:167 ORPHA:459056 OMIM:616680 ORPHA:309282 ORPHA:401835 OMIM:300055 ORPHA:369891 ORPHA:67047 ORPHA:395 ORPHA:254343 OMIM:613672 ORPHA:320375 ORPHA:254930 OMIM:615035 ORPHA:927 OMIM:162210 ORPHA:100988 OMIM:600363 ORPHA:320396 OMIM:613162 ORPHA:1215 ORPHA:79254 ORPHA:896 OMIM:148820 OMIM:245349 OMIM:614877 OMIM:617370 ORPHA:401820 OMIM:619621 ORPHA:280234 OMIM:312080 ORPHA:280229 OMIM:312920 ORPHA:760 ORPHA:139480 OMIM:245800 OMIM:612020 ORPHA:726 OMIM:619234 ORPHA:391408 ORPHA:99014 ORPHA:544469 ORPHA:401830 ORPHA:90307 OMIM:610250 OMIM:615625 OMIM:610181 OMIM:619686 OMIM:619688 ORPHA:100993 OMIM:604805 OMIM:617053 ORPHA:3208 ORPHA:506353 ORPHA:357043 OMIM:300523 OMIM:607483 OMIM:238970 ORPHA:415 OMIM:601042 ORPHA:168577 ORPHA:53583 ORPHA:309854 OMIM:613280 ORPHA:171863 OMIM:612539 OMIM:609136 ORPHA:79124 ORPHA:101000 OMIM:275900 OMIM:182601 ORPHA:2822 OMIM:604360 OMIM:248900 ORPHA:35689 OMIM:607259 OMIM:612164 ORPHA:496756 OMIM:615031 ORPHA:431329 OMIM:615658 OMIM:602080 OMIM:614969 OMIM:615157 OMIM:105210 OMIM:618418 OMIM:615491 ORPHA:401795 ORPHA:251282 OMIM:108600 ORPHA:329475 OMIM:614898 ORPHA:100989 OMIM:603563 ORPHA:329284 OMIM:300894 OMIM:617977 ORPHA:401800 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen