Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 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 | 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 | 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:606693 | Kufor-Rakeb syndrome | | | | 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 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
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 | 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 |