Human Phenotype Ontology

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

Grandparent Node:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormal reflex (HP:0031826)

..Starting node
..Abnormal superficial reflex (HP:0031828)

Term ID:

31828

Name:

Abnormal superficial reflex

Synonym:

Definition:

An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.

Comments:

Reference:

HP:0031828

Genes and Diseases:

Child Nodes:

........

Babinski sign (HP:0003487)

........

Absent abdominal reflex (HP:0031827)

........

Absent cremaster reflex (HP:0031829)

Sister Nodes:

Hyperreflexia (HP:0001347)

Reduced tendon reflexes (HP:0001315)

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:0031828	HP:0031828	Abnormal superficial reflex	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease		48
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease		48
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis		100
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7		8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0031828	HP:0031828	Abnormal superficial reflex	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0031828	HP:0031828	Abnormal superficial reflex	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0031828	HP:0031828	Abnormal superficial reflex	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0031828	HP:0031828	Abnormal superficial reflex	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0031828	HP:0031828	Abnormal superficial reflex	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0031828	HP:0031828	Abnormal superficial reflex	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0031828	HP:0031828	Abnormal superficial reflex	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0031828	HP:0031828	Abnormal superficial reflex	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0031828	HP:0031828	Abnormal superficial reflex	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13		20
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0031828	HP:0031828	Abnormal superficial reflex	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28		35
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0031828	HP:0031828	Abnormal superficial reflex	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031828	HP:0031828	Abnormal superficial reflex	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0031828	HP:0031828	Abnormal superficial reflex	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy		121
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0031828	HP:0031828	Abnormal superficial reflex	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4		46
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0031828	HP:0031828	Abnormal superficial reflex	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0031828	HP:0031828	Abnormal superficial reflex	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0031828	HP:0031828	Abnormal superficial reflex	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0031828	HP:0031828	Abnormal superficial reflex	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0031828	HP:0031828	Abnormal superficial reflex	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0031828	HP:0031828	Abnormal superficial reflex	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1		145
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9		276
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58		38
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0031828	HP:0031828	Abnormal superficial reflex	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0031828	HP:0031828	Abnormal superficial reflex	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0031828	HP:0031828	Abnormal superficial reflex	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0031828	HP:0031828	Abnormal superficial reflex	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0031828	HP:0031828	Abnormal superficial reflex	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0031828	HP:0031828	Abnormal superficial reflex	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G		118
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45		15
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive		15
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0031828	HP:0031828	Abnormal superficial reflex	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0031828	HP:0031828	Abnormal superficial reflex	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0031828	HP:0031828	Abnormal superficial reflex	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III		163
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23		52
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23		52
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39		103
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0031828	HP:0031828	Abnormal superficial reflex	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0031828	HP:0031828	Abnormal superficial reflex	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0031828	HP:0031828	Abnormal superficial reflex	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0031828	HP:0031828	Abnormal superficial reflex	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0031828	HP:0031828	Abnormal superficial reflex	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0031828	HP:0031828	Abnormal superficial reflex	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B		133
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1		73
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0031828	HP:0031828	Abnormal superficial reflex	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0031828	HP:0031828	Abnormal superficial reflex	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0031828	HP:0031828	Abnormal superficial reflex	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0031828	HP:0031828	Abnormal superficial reflex	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4		162
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1		255
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0031828	HP:0031828	Abnormal superficial reflex	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0031828	HP:0031828	Abnormal superficial reflex	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome		7
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia		65
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35		58
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		80
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia		203
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7		203
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		2
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0031828	HP:0031828	Abnormal superficial reflex	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0031828	HP:0031828	Abnormal superficial reflex	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0031828	HP:0031828	Abnormal superficial reflex	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0031828	HP:0031828	Abnormal superficial reflex	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0031828	HP:0031828	Abnormal superficial reflex	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031828	HP:0031828	Abnormal superficial reflex	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0031828	HP:0031828	Abnormal superficial reflex	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0031828	HP:0031828	Abnormal superficial reflex	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0031828	HP:0031828	Abnormal superficial reflex	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0031828	HP:0031828	Abnormal superficial reflex	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0031828	HP:0031828	Abnormal superficial reflex	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0031828	HP:0031828	Abnormal superficial reflex	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0031828	HP:0031828	Abnormal superficial reflex	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0031828	HP:0031828	Abnormal superficial reflex	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0031828	HP:0031829	Absent cremaster reflex	1	CL E G H
HP:0031828	HP:0031827	Absent abdominal reflex	1	CL E G H
HP:0031828	HP:0003487	Babinski sign	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0031828	HP:0003487	Babinski sign	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031828	HP:0003487	Babinski sign	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0031828	HP:0003487	Babinski sign	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0031828	HP:0003487	Babinski sign	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0031828	HP:0003487	Babinski sign	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0031828	HP:0003487	Babinski sign	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0031828	HP:0003487	Babinski sign	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0031828	HP:0003487	Babinski sign	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.	88
HP:0031828	HP:0003487	Babinski sign	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0031828	HP:0003487	Babinski sign	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0031828	HP:0003487	Babinski sign	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040282 - Frequent	86
HP:0031828	HP:0003487	Babinski sign	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0031828	HP:0003487	Babinski sign	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0031828	HP:0003487	Babinski sign	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	89
HP:0031828	HP:0003487	Babinski sign	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0031828	HP:0003487	Babinski sign	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent	89
HP:0031828	HP:0003487	Babinski sign	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0031828	HP:0003487	Babinski sign	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0031828	HP:0003487	Babinski sign	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0031828	HP:0003487	Babinski sign	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0031828	HP:0003487	Babinski sign	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0031828	HP:0003487	Babinski sign	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0031828	HP:0003487	Babinski sign	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031828	HP:0003487	Babinski sign	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0031828	HP:0003487	Babinski sign	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0031828	HP:0003487	Babinski sign	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0031828	HP:0003487	Babinski sign	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0031828	HP:0003487	Babinski sign	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0031828	HP:0003487	Babinski sign	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0031828	HP:0003487	Babinski sign	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0031828	HP:0003487	Babinski sign	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0031828	HP:0003487	Babinski sign	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0031828	HP:0003487	Babinski sign	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0031828	HP:0003487	Babinski sign	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0031828	HP:0003487	Babinski sign	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0031828	HP:0003487	Babinski sign	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	253
HP:0031828	HP:0003487	Babinski sign	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0031828	HP:0003487	Babinski sign	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional	48
HP:0031828	HP:0003487	Babinski sign	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0031828	HP:0003487	Babinski sign	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0031828	HP:0003487	Babinski sign	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent	71
HP:0031828	HP:0003487	Babinski sign	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0031828	HP:0003487	Babinski sign	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent	100
HP:0031828	HP:0003487	Babinski sign	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0031828	HP:0003487	Babinski sign	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0031828	HP:0003487	Babinski sign	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent	100
HP:0031828	HP:0003487	Babinski sign	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0031828	HP:0003487	Babinski sign	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040283 - Occasional
HP:0031828	HP:0003487	Babinski sign	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0031828	HP:0003487	Babinski sign	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	HP:0040283 - Occasional	36
HP:0031828	HP:0003487	Babinski sign	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0031828	HP:0003487	Babinski sign	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040282 - Frequent	36
HP:0031828	HP:0003487	Babinski sign	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0031828	HP:0003487	Babinski sign	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0031828	HP:0003487	Babinski sign	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0031828	HP:0003487	Babinski sign	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0031828	HP:0003487	Babinski sign	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0031828	HP:0003487	Babinski sign	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0031828	HP:0003487	Babinski sign	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0031828	HP:0003487	Babinski sign	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0031828	HP:0003487	Babinski sign	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0031828	HP:0003487	Babinski sign	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0031828	HP:0003487	Babinski sign	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent	8
HP:0031828	HP:0003487	Babinski sign	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent	25
HP:0031828	HP:0003487	Babinski sign	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0031828	HP:0003487	Babinski sign	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0031828	HP:0003487	Babinski sign	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0031828	HP:0003487	Babinski sign	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent	105
HP:0031828	HP:0003487	Babinski sign	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0031828	HP:0003487	Babinski sign	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0031828	HP:0003487	Babinski sign	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040281 - Very frequent	114
HP:0031828	HP:0003487	Babinski sign	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent	114
HP:0031828	HP:0003487	Babinski sign	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0031828	HP:0003487	Babinski sign	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0031828	HP:0003487	Babinski sign	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0031828	HP:0003487	Babinski sign	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent	449
HP:0031828	HP:0003487	Babinski sign	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0031828	HP:0003487	Babinski sign	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0031828	HP:0003487	Babinski sign	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040281 - Very frequent	4
HP:0031828	HP:0003487	Babinski sign	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0031828	HP:0003487	Babinski sign	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0031828	HP:0003487	Babinski sign	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0031828	HP:0003487	Babinski sign	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0031828	HP:0003487	Babinski sign	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0031828	HP:0003487	Babinski sign	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0031828	HP:0003487	Babinski sign	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0031828	HP:0003487	Babinski sign	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0031828	HP:0003487	Babinski sign	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031828	HP:0003487	Babinski sign	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031828	HP:0003487	Babinski sign	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0031828	HP:0003487	Babinski sign	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0031828	HP:0003487	Babinski sign	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0031828	HP:0003487	Babinski sign	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0031828	HP:0003487	Babinski sign	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0031828	HP:0003487	Babinski sign	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0031828	HP:0003487	Babinski sign	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0031828	HP:0003487	Babinski sign	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0031828	HP:0003487	Babinski sign	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0031828	HP:0003487	Babinski sign	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0031828	HP:0003487	Babinski sign	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0031828	HP:0003487	Babinski sign	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040281 - Very frequent	18
HP:0031828	HP:0003487	Babinski sign	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0031828	HP:0003487	Babinski sign	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0031828	HP:0003487	Babinski sign	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0031828	HP:0003487	Babinski sign	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031828	HP:0003487	Babinski sign	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent	60
HP:0031828	HP:0003487	Babinski sign	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0031828	HP:0003487	Babinski sign	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0031828	HP:0003487	Babinski sign	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040281 - Very frequent	35
HP:0031828	HP:0003487	Babinski sign	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0031828	HP:0003487	Babinski sign	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0031828	HP:0003487	Babinski sign	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0031828	HP:0003487	Babinski sign	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0031828	HP:0003487	Babinski sign	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0031828	HP:0003487	Babinski sign	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	HP:0040283 - Occasional	3
HP:0031828	HP:0003487	Babinski sign	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040283 - Occasional	3
HP:0031828	HP:0003487	Babinski sign	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0031828	HP:0003487	Babinski sign	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0031828	HP:0003487	Babinski sign	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0031828	HP:0003487	Babinski sign	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031828	HP:0003487	Babinski sign	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040283 - Occasional	4
HP:0031828	HP:0003487	Babinski sign	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0031828	HP:0003487	Babinski sign	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0031828	HP:0003487	Babinski sign	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031828	HP:0003487	Babinski sign	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0031828	HP:0003487	Babinski sign	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0031828	HP:0003487	Babinski sign	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent	18
HP:0031828	HP:0003487	Babinski sign	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0031828	HP:0003487	Babinski sign	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0031828	HP:0003487	Babinski sign	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0031828	HP:0003487	Babinski sign	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0031828	HP:0003487	Babinski sign	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	7
HP:0031828	HP:0003487	Babinski sign	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0031828	HP:0003487	Babinski sign	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0031828	HP:0003487	Babinski sign	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0031828	HP:0003487	Babinski sign	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0031828	HP:0003487	Babinski sign	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0031828	HP:0003487	Babinski sign	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0031828	HP:0003487	Babinski sign	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare	33
HP:0031828	HP:0003487	Babinski sign	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0031828	HP:0003487	Babinski sign	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent	18
HP:0031828	HP:0003487	Babinski sign	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0031828	HP:0003487	Babinski sign	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0031828	HP:0003487	Babinski sign	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040283 - Occasional	121
HP:0031828	HP:0003487	Babinski sign	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040281 - Very frequent	30
HP:0031828	HP:0003487	Babinski sign	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040281 - Very frequent	30
HP:0031828	HP:0003487	Babinski sign	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0031828	HP:0003487	Babinski sign	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0031828	HP:0003487	Babinski sign	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0031828	HP:0003487	Babinski sign	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0031828	HP:0003487	Babinski sign	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0031828	HP:0003487	Babinski sign	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0031828	HP:0003487	Babinski sign	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional	107
HP:0031828	HP:0003487	Babinski sign	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040283 - Occasional	107
HP:0031828	HP:0003487	Babinski sign	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0031828	HP:0003487	Babinski sign	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0031828	HP:0003487	Babinski sign	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0031828	HP:0003487	Babinski sign	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0031828	HP:0003487	Babinski sign	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0031828	HP:0003487	Babinski sign	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0031828	HP:0003487	Babinski sign	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0031828	HP:0003487	Babinski sign	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0031828	HP:0003487	Babinski sign	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0031828	HP:0003487	Babinski sign	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031828	HP:0003487	Babinski sign	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0031828	HP:0003487	Babinski sign	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0031828	HP:0003487	Babinski sign	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0031828	HP:0003487	Babinski sign	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0031828	HP:0003487	Babinski sign	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0031828	HP:0003487	Babinski sign	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0031828	HP:0003487	Babinski sign	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040283 - Occasional	16
HP:0031828	HP:0003487	Babinski sign	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0031828	HP:0003487	Babinski sign	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0031828	HP:0003487	Babinski sign	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0031828	HP:0003487	Babinski sign	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0031828	HP:0003487	Babinski sign	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031828	HP:0003487	Babinski sign	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0031828	HP:0003487	Babinski sign	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0031828	HP:0003487	Babinski sign	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0031828	HP:0003487	Babinski sign	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0031828	HP:0003487	Babinski sign	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.	276
HP:0031828	HP:0003487	Babinski sign	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0031828	HP:0003487	Babinski sign	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0031828	HP:0003487	Babinski sign	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0031828	HP:0003487	Babinski sign	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0031828	HP:0003487	Babinski sign	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0031828	HP:0003487	Babinski sign	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0031828	HP:0003487	Babinski sign	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040283 - Occasional	3
HP:0031828	HP:0003487	Babinski sign	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0031828	HP:0003487	Babinski sign	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0031828	HP:0003487	Babinski sign	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0031828	HP:0003487	Babinski sign	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0031828	HP:0003487	Babinski sign	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0031828	HP:0003487	Babinski sign	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0031828	HP:0003487	Babinski sign	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0031828	HP:0003487	Babinski sign	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0031828	HP:0003487	Babinski sign	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0031828	HP:0003487	Babinski sign	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional	4
HP:0031828	HP:0003487	Babinski sign	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0031828	HP:0003487	Babinski sign	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0031828	HP:0003487	Babinski sign	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0031828	HP:0003487	Babinski sign	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0031828	HP:0003487	Babinski sign	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0031828	HP:0003487	Babinski sign	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0031828	HP:0003487	Babinski sign	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0031828	HP:0003487	Babinski sign	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0031828	HP:0003487	Babinski sign	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent	19
HP:0031828	HP:0003487	Babinski sign	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0031828	HP:0003487	Babinski sign	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0031828	HP:0003487	Babinski sign	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0031828	HP:0003487	Babinski sign	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0031828	HP:0003487	Babinski sign	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0031828	HP:0003487	Babinski sign	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0031828	HP:0003487	Babinski sign	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0031828	HP:0003487	Babinski sign	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0031828	HP:0003487	Babinski sign	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0031828	HP:0003487	Babinski sign	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0031828	HP:0003487	Babinski sign	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0031828	HP:0003487	Babinski sign	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0031828	HP:0003487	Babinski sign	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0031828	HP:0003487	Babinski sign	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0031828	HP:0003487	Babinski sign	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0031828	HP:0003487	Babinski sign	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0031828	HP:0003487	Babinski sign	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0031828	HP:0003487	Babinski sign	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.	89
HP:0031828	HP:0003487	Babinski sign	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0031828	HP:0003487	Babinski sign	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0031828	HP:0003487	Babinski sign	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.	163
HP:0031828	HP:0003487	Babinski sign	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0031828	HP:0003487	Babinski sign	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0031828	HP:0003487	Babinski sign	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031828	HP:0003487	Babinski sign	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0031828	HP:0003487	Babinski sign	1	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent	52
HP:0031828	HP:0003487	Babinski sign	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0031828	HP:0003487	Babinski sign	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0031828	HP:0003487	Babinski sign	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0031828	HP:0003487	Babinski sign	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0031828	HP:0003487	Babinski sign	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0031828	HP:0003487	Babinski sign	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0031828	HP:0003487	Babinski sign	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0031828	HP:0003487	Babinski sign	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0031828	HP:0003487	Babinski sign	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0031828	HP:0003487	Babinski sign	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0031828	HP:0003487	Babinski sign	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0031828	HP:0003487	Babinski sign	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0031828	HP:0003487	Babinski sign	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040281 - Very frequent	60
HP:0031828	HP:0003487	Babinski sign	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0031828	HP:0003487	Babinski sign	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0031828	HP:0003487	Babinski sign	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive	.	103
HP:0031828	HP:0003487	Babinski sign	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0031828	HP:0003487	Babinski sign	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0031828	HP:0003487	Babinski sign	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0031828	HP:0003487	Babinski sign	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0031828	HP:0003487	Babinski sign	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0031828	HP:0003487	Babinski sign	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0031828	HP:0003487	Babinski sign	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0031828	HP:0003487	Babinski sign	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0031828	HP:0003487	Babinski sign	1	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0031828	HP:0003487	Babinski sign	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0031828	HP:0003487	Babinski sign	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional	49
HP:0031828	HP:0003487	Babinski sign	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.	73
HP:0031828	HP:0003487	Babinski sign	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0031828	HP:0003487	Babinski sign	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0031828	HP:0003487	Babinski sign	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0031828	HP:0003487	Babinski sign	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0031828	HP:0003487	Babinski sign	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	81
HP:0031828	HP:0003487	Babinski sign	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0031828	HP:0003487	Babinski sign	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0031828	HP:0003487	Babinski sign	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0031828	HP:0003487	Babinski sign	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0031828	HP:0003487	Babinski sign	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional	3
HP:0031828	HP:0003487	Babinski sign	1	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.	3
HP:0031828	HP:0003487	Babinski sign	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0031828	HP:0003487	Babinski sign	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0031828	HP:0003487	Babinski sign	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0031828	HP:0003487	Babinski sign	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0031828	HP:0003487	Babinski sign	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0031828	HP:0003487	Babinski sign	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0031828	HP:0003487	Babinski sign	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0031828	HP:0003487	Babinski sign	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0031828	HP:0003487	Babinski sign	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0031828	HP:0003487	Babinski sign	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0031828	HP:0003487	Babinski sign	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0031828	HP:0003487	Babinski sign	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0031828	HP:0003487	Babinski sign	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0031828	HP:0003487	Babinski sign	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0031828	HP:0003487	Babinski sign	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031828	HP:0003487	Babinski sign	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0031828	HP:0003487	Babinski sign	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0031828	HP:0003487	Babinski sign	1	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040282 - Frequent	162
HP:0031828	HP:0003487	Babinski sign	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0031828	HP:0003487	Babinski sign	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031828	HP:0003487	Babinski sign	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0031828	HP:0003487	Babinski sign	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0031828	HP:0003487	Babinski sign	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0031828	HP:0003487	Babinski sign	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0031828	HP:0003487	Babinski sign	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0031828	HP:0003487	Babinski sign	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0031828	HP:0003487	Babinski sign	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0031828	HP:0003487	Babinski sign	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0031828	HP:0003487	Babinski sign	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0031828	HP:0003487	Babinski sign	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0031828	HP:0003487	Babinski sign	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0031828	HP:0003487	Babinski sign	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0031828	HP:0003487	Babinski sign	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0031828	HP:0003487	Babinski sign	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0031828	HP:0003487	Babinski sign	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0031828	HP:0003487	Babinski sign	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0031828	HP:0003487	Babinski sign	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0031828	HP:0003487	Babinski sign	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0031828	HP:0003487	Babinski sign	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0031828	HP:0003487	Babinski sign	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0031828	HP:0003487	Babinski sign	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0031828	HP:0003487	Babinski sign	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0031828	HP:0003487	Babinski sign	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0031828	HP:0003487	Babinski sign	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0031828	HP:0003487	Babinski sign	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0031828	HP:0003487	Babinski sign	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent	171
HP:0031828	HP:0003487	Babinski sign	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0031828	HP:0003487	Babinski sign	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0031828	HP:0003487	Babinski sign	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0031828	HP:0003487	Babinski sign	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0031828	HP:0003487	Babinski sign	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0031828	HP:0003487	Babinski sign	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent	1129
HP:0031828	HP:0003487	Babinski sign	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.	7
HP:0031828	HP:0003487	Babinski sign	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent	7
HP:0031828	HP:0003487	Babinski sign	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0031828	HP:0003487	Babinski sign	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0031828	HP:0003487	Babinski sign	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0031828	HP:0003487	Babinski sign	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0031828	HP:0003487	Babinski sign	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0031828	HP:0003487	Babinski sign	1	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent	18
HP:0031828	HP:0003487	Babinski sign	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0031828	HP:0003487	Babinski sign	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0031828	HP:0003487	Babinski sign	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0031828	HP:0003487	Babinski sign	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0031828	HP:0003487	Babinski sign	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0031828	HP:0003487	Babinski sign	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0031828	HP:0003487	Babinski sign	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031828	HP:0003487	Babinski sign	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0031828	HP:0003487	Babinski sign	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0031828	HP:0003487	Babinski sign	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0031828	HP:0003487	Babinski sign	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0031828	HP:0003487	Babinski sign	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0031828	HP:0003487	Babinski sign	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0031828	HP:0003487	Babinski sign	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional	3
HP:0031828	HP:0003487	Babinski sign	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0031828	HP:0003487	Babinski sign	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0031828	HP:0003487	Babinski sign	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0031828	HP:0003487	Babinski sign	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0031828	HP:0003487	Babinski sign	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0031828	HP:0003487	Babinski sign	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	HP:0040283 - Occasional	88
HP:0031828	HP:0003487	Babinski sign	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0031828	HP:0003487	Babinski sign	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0031828	HP:0003487	Babinski sign	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0031828	HP:0003487	Babinski sign	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0031828	HP:0003487	Babinski sign	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0031828	HP:0003487	Babinski sign	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031828	HP:0003487	Babinski sign	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0031828	HP:0003487	Babinski sign	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0031828	HP:0003487	Babinski sign	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0031828	HP:0003487	Babinski sign	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0031828	HP:0003487	Babinski sign	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0031828	HP:0003487	Babinski sign	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0031828	HP:0003487	Babinski sign	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0031828	HP:0003487	Babinski sign	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	HP:0040283 - Occasional	149
HP:0031828	HP:0003487	Babinski sign	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0031828	HP:0003487	Babinski sign	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0031828	HP:0003487	Babinski sign	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0031828	HP:0003487	Babinski sign	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52

Genes (256) :AAAS AARS1 ABCB7 ABCD1 ABHD12 ABHD16A ACOX1 ADAR ADGRG1 ADPRS AFG3L2 AIFM1 ALDH18A1 ALS2 AMPD2 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 APOE ARSA ARX ASPA ATG5 ATL1 ATP13A2 ATP6 ATP6AP2 ATP7A ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 B4GALNT1 BICD2 BRAT1 BSCL2 C19ORF12 C9ORF72 CACNA1A CACNA1G CAPN1 CAV1 CCT5 CHCHD10 CHMP2B CHP1 CLDN11 CNP CNTNAP1 COL4A1 COQ2 COX20 CPT1C CTDP1 CTSF CWF19L1 CYP27A1 CYP2U1 CYP7B1 DARS1 DARS2 DDC DDHD1 DDHD2 DEGS1 DKK1 DLAT DNAJC3 DNMT1 DPM3 DSTYK DTYMK EEF2 EIF2AK2 EIF2S3 ELOVL1 ERCC6 ERLIN1 ERLIN2 ETHE1 FA2H FAR1 FARS2 FBXO7 FGF13 FTL FUS FXN GALC GAN GBA2 GCH1 GFAP GFM2 GJB1 GJC2 GLRX5 GPT2 GRIA3 GRID2 HADHA HADHB HPDL HSPD1 HTRA1 HTT HYCC1 IBA57 IMPDH2 IREB2 IRF2BPL JAM2 KCNA1 KCNA4 KDM5C KIF1A KIF1C KIF5A KLC2 KPNA3 KY LARGE1 LETM1 LMNB1 LYRM7 MAG MAN2B1 MCOLN1 MDH2 MECP2 MECR MFN2 MORC2 MPZ MTPAP MTRFR MTTP NDE1 NDUFA4 NDUFS1 NDUFS4 NEFH NEFL NFASC NIPA1 NOP56 NR4A2 NT5C2 NUBPL NUP62 OPA1 OPA3 PANK2 PARS2 PCYT2 PDYN PET117 PEX16 PGAP1 PI4KA PIGA PIGT PIK3R5 PLA2G6 PLAA PLP1 PMP22 PNPLA6 PNPT1 POLG POLR3A POLR3B PRICKLE1 PRNP PRPS1 PRSS12 PSAP PSEN1 PYCR2 REEP1 REEP2 RFC1 RNASEH1 RNF170 RTN2 RUSC2 SACS SAMD9L SDHA SDHAF1 SDHB SDHD SELENOI SEPSECS SETX SHMT2 SIGMAR1 SLC16A2 SLC19A3 SLC1A2 SLC1A4 SLC25A46 SLC2A1 SLC2A3 SLC33A1 SLC39A14 SLC44A1 SNCA SNX14 SOD1 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 STUB1 SYNE1 TAF2 TANGO2 TARDBP TBC1D20 TBK1 TFG TGM6 TH TIMM8A TMEM63A TMEM63C TOR1A TPP1 TREM2 TRMT5 TRNE TSEN15 TSEN2 TSEN34 TSEN54 TSPOAP1 TTC19 TWNK TYROBP UBAP1 UCHL1 UGDH VAMP1 VCP VPS13D WASHC5 WWOX ZFR ZFYVE26 ZFYVE27

Diseases (344) :OMIM:231550 OMIM:619691 OMIM:301310 ORPHA:139399 OMIM:612674 OMIM:619735 OMIM:264470 ORPHA:225154 OMIM:606854 OMIM:618170 OMIM:610246 ORPHA:101109 ORPHA:83629 OMIM:300232 ORPHA:447753 ORPHA:447757 ORPHA:447760 OMIM:601162 OMIM:616586 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:615686 OMIM:619733 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:607822 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:300419 ORPHA:314918 ORPHA:314911 OMIM:617584 ORPHA:100984 OMIM:182600 ORPHA:314632 ORPHA:513436 OMIM:606693 ORPHA:306674 OMIM:617225 ORPHA:320360 ORPHA:644 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:363654 OMIM:309400 OMIM:164400 OMIM:603516 ORPHA:98761 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:94147 ORPHA:101006 OMIM:609195 OMIM:615290 OMIM:614498 ORPHA:100998 OMIM:619112 OMIM:270685 ORPHA:320370 ORPHA:289560 OMIM:614298 OMIM:615043 ORPHA:275872 ORPHA:98758 OMIM:616795 ORPHA:458803 ORPHA:488594 OMIM:616907 OMIM:606721 ORPHA:139578 OMIM:256840 OMIM:615911 OMIM:600795 OMIM:618438 OMIM:619328 OMIM:619071 OMIM:618186 OMIM:175780 OMIM:146500 OMIM:619054 ORPHA:444099 OMIM:616282 OMIM:604168 OMIM:615362 ORPHA:453521 OMIM:213700 ORPHA:909 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 OMIM:615281 ORPHA:137898 OMIM:611105 OMIM:608643 ORPHA:101008 OMIM:609340 OMIM:615033 OMIM:618404 ORPHA:268882 ORPHA:79244 OMIM:616192 ORPHA:445062 ORPHA:314404 ORPHA:263494 OMIM:270750 OMIM:619847 ORPHA:101112 OMIM:619687 OMIM:300148 OMIM:618527 OMIM:278800 OMIM:615681 ORPHA:209951 OMIM:611225 OMIM:602473 ORPHA:171629 OMIM:612319 ORPHA:466722 OMIM:617046 OMIM:260300 ORPHA:171695 OMIM:301058 OMIM:606159 ORPHA:157846 ORPHA:95 OMIM:229300 ORPHA:206448 ORPHA:643 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:98808 OMIM:128230 OMIM:203450 ORPHA:363722 ORPHA:565624 OMIM:302800 ORPHA:1175 OMIM:608804 OMIM:613206 ORPHA:401866 OMIM:616859 ORPHA:477673 ORPHA:364028 OMIM:616204 ORPHA:746 OMIM:619027 ORPHA:100994 OMIM:612233 OMIM:605280 OMIM:600142 ORPHA:399 OMIM:610532 ORPHA:468661 OMIM:616451 OMIM:618451 OMIM:618088 OMIM:618824 OMIM:160120 OMIM:618284 OMIM:300534 ORPHA:101010 OMIM:614255 OMIM:610357 ORPHA:397946 OMIM:611302 ORPHA:100991 OMIM:604187 OMIM:609541 ORPHA:171612 ORPHA:496689 OMIM:608840 OMIM:620089 ORPHA:99027 OMIM:169500 OMIM:615838 ORPHA:459056 OMIM:616680 OMIM:248500 OMIM:252650 OMIM:617339 OMIM:300055 OMIM:617282 ORPHA:99947 OMIM:609260 ORPHA:466768 OMIM:616688 OMIM:619090 ORPHA:3115 ORPHA:254343 OMIM:613672 ORPHA:320375 OMIM:615035 ORPHA:14 OMIM:614019 OMIM:619065 OMIM:618226 OMIM:252010 OMIM:616924 OMIM:617882 OMIM:618356 ORPHA:100988 OMIM:600363 OMIM:614153 ORPHA:276198 ORPHA:320396 OMIM:613162 OMIM:618242 OMIM:210000 OMIM:258501 OMIM:234200 OMIM:618437 OMIM:618770 OMIM:610245 ORPHA:101108 OMIM:619063 OMIM:614877 ORPHA:401820 OMIM:615802 OMIM:619621 OMIM:301072 OMIM:615398 ORPHA:64753 OMIM:610217 OMIM:617527 ORPHA:280229 OMIM:312920 ORPHA:99015 ORPHA:139480 OMIM:612020 OMIM:608703 ORPHA:101111 OMIM:258450 OMIM:607459 OMIM:607694 ORPHA:447896 OMIM:619742 OMIM:612437 ORPHA:282166 ORPHA:423479 OMIM:249500 OMIM:611721 OMIM:249900 OMIM:616420 OMIM:610250 OMIM:615625 ORPHA:504476 OMIM:616479 OMIM:608984 OMIM:619686 ORPHA:100993 OMIM:604805 OMIM:617773 ORPHA:98 OMIM:270550 OMIM:159550 OMIM:619806 ORPHA:3208 OMIM:252011 OMIM:619259 ORPHA:506353 OMIM:618768 ORPHA:2524 OMIM:602433 ORPHA:357043 OMIM:619121 OMIM:605726 ORPHA:59 OMIM:300523 OMIM:607483 OMIM:617105 OMIM:616657 OMIM:616505 OMIM:606777 ORPHA:171863 OMIM:612539 ORPHA:521406 OMIM:617013 OMIM:618868 ORPHA:397709 OMIM:616354 OMIM:618598 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:602099 OMIM:604360 OMIM:248900 ORPHA:35689 OMIM:607259 ORPHA:99013 OMIM:618093 OMIM:615768 ORPHA:88644 OMIM:615599 ORPHA:397951 ORPHA:480864 OMIM:612069 OMIM:615663 ORPHA:431329 OMIM:615658 OMIM:613908 ORPHA:276193 ORPHA:101150 ORPHA:52368 OMIM:618688 OMIM:619966 OMIM:128100 ORPHA:284324 OMIM:609270 OMIM:618193 OMIM:616539 ORPHA:2596 OMIM:617026 OMIM:612389 OMIM:615157 OMIM:221770 OMIM:618418 OMIM:615491 OMIM:618792 ORPHA:251282 OMIM:613954 ORPHA:329475 OMIM:607317 ORPHA:100989 OMIM:603563 OMIM:614322 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:610244

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

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