Human Phenotype Ontology 
Grandparent Node:
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Abnormal reflex (HP:0031826)help
Parent Node:
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Reduced tendon reflexes (HP:0001315)help
..Starting node
..expand
Hyporeflexia (HP:0001265)help
Term ID: 1265
Name: Hyporeflexia
Synonym: Decreased reflex response; Decreased reflexes
Definition: Reduction of neurologic reflexes such as the knee-jerk reaction.
Comments:
Reference: HP:0001265
Genes and Diseases:
 
       Child Nodes:
........expandHyporeflexia of lower limbs (HP:0002600) help
................... HP:0009072 Decreased Achilles reflex
................... HP:0011808 Decreased patellar reflex
........expandHyporeflexia of upper limbs (HP:0012391) help
........expandJaw hyporeflexia (HP:0012392) help

 Sister Nodes: 
..expandAreflexia (HP:0001284) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001265HP:0001265Hyporeflexia0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001265HP:0001265Hyporeflexia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0001265HP:0001265Hyporeflexia0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0001265HP:0001265Hyporeflexia0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0001265HP:0001265Hyporeflexia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0001265HP:0001265Hyporeflexia0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional11
HP:0001265HP:0001265Hyporeflexia0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001265HP:0001265Hyporeflexia0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040282 - Frequent96
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0001265HP:0001265Hyporeflexia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001265HP:0001265Hyporeflexia0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001265HP:0001265Hyporeflexia0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0001265HP:0001265Hyporeflexia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0001265HP:0001265Hyporeflexia0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001265HP:0001265Hyporeflexia0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0001265HP:0001265Hyporeflexia0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0001265HP:0001265Hyporeflexia0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001265HP:0001265Hyporeflexia0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001265HP:0001265Hyporeflexia0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001265HP:0001265Hyporeflexia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0001265HP:0001265Hyporeflexia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0001265HP:0001265Hyporeflexia0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0001265HP:0001265Hyporeflexia0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0001265HP:0001265Hyporeflexia0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0001265HP:0001265Hyporeflexia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001265HP:0001265Hyporeflexia0ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF5
HP:0001265HP:0001265Hyporeflexia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0001265HP:0001265Hyporeflexia0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD.4
HP:0001265HP:0001265Hyporeflexia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0001265HP:0001265Hyporeflexia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0001265HP:0001265Hyporeflexia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001265HP:0001265Hyporeflexia0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0001265HP:0001265Hyporeflexia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001265HP:0001265Hyporeflexia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0001265HP:0001265Hyporeflexia0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3.192
HP:0001265HP:0001265Hyporeflexia0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0001265HP:0001265Hyporeflexia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0001265HP:0001265Hyporeflexia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001265HP:0001265Hyporeflexia0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0001265HP:0001265Hyporeflexia0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0001265HP:0001265Hyporeflexia0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040284 - Very rare25
HP:0001265HP:0001265Hyporeflexia0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0001265HP:0001265Hyporeflexia0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0001265HP:0001265Hyporeflexia0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0001265HP:0001265Hyporeflexia0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040283 - Occasional46
HP:0001265HP:0001265Hyporeflexia0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0001265HP:0001265Hyporeflexia0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001265HP:0001265Hyporeflexia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001265HP:0001265Hyporeflexia0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0001265HP:0001265Hyporeflexia0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0001265HP:0001265Hyporeflexia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0001265HP:0001265Hyporeflexia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001265HP:0001265Hyporeflexia0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent247
HP:0001265HP:0001265Hyporeflexia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0001265HP:0001265Hyporeflexia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0001265HP:0001265Hyporeflexia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0001265HP:0001265Hyporeflexia0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0001265HP:0001265Hyporeflexia0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0001265HP:0001265Hyporeflexia0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0001265HP:0001265Hyporeflexia0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0001265HP:0001265Hyporeflexia0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001265HP:0001265Hyporeflexia0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001265HP:0001265Hyporeflexia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0001265HP:0001265Hyporeflexia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0001265HP:0001265Hyporeflexia0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0001265HP:0001265Hyporeflexia0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001265HP:0001265Hyporeflexia0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0001265HP:0001265Hyporeflexia0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0001265HP:0001265Hyporeflexia0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0001265HP:0001265Hyporeflexia0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001265HP:0001265Hyporeflexia0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001265HP:0001265Hyporeflexia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0001265HP:0001265Hyporeflexia0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0001265HP:0001265Hyporeflexia0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0001265HP:0001265Hyporeflexia0COX6A1 CL E G H13372277OMIM:616039Charcot-Marie-Tooth disease, recessive intermediate D.4
HP:0001265HP:0001265Hyporeflexia0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0001265HP:0001265Hyporeflexia0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001265HP:0001265Hyporeflexia0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040282 - Frequent46
HP:0001265HP:0001265Hyporeflexia0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0001265HP:0001265Hyporeflexia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0001265HP:0001265Hyporeflexia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040283 - Occasional60
HP:0001265HP:0001265Hyporeflexia0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0001265HP:0001265Hyporeflexia0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0001265HP:0001265Hyporeflexia0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0001265HP:0001265Hyporeflexia0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0001265HP:0001265Hyporeflexia0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0001265HP:0001265Hyporeflexia0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0001265HP:0001265Hyporeflexia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0001265HP:0001265Hyporeflexia0DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0001265HP:0001265Hyporeflexia0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0001265HP:0001265Hyporeflexia0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional65
HP:0001265HP:0001265Hyporeflexia0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0001265HP:0001265Hyporeflexia0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type.1496
HP:0001265HP:0001265Hyporeflexia0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0001265HP:0001265Hyporeflexia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0001265HP:0001265Hyporeflexia0DNM2 CL E G H17852974OMIM:606482Charcot-Marie-Tooth disease, dominant intermediate B.167
HP:0001265HP:0001265Hyporeflexia0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0001265HP:0001265Hyporeflexia0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0001265HP:0001265Hyporeflexia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0001265HP:0001265Hyporeflexia0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0001265HP:0001265Hyporeflexia0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0001265HP:0001265Hyporeflexia0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0001265HP:0001265Hyporeflexia0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13.427
HP:0001265HP:0001265Hyporeflexia0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0001265HP:0001265Hyporeflexia0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0001265HP:0001265Hyporeflexia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0001265HP:0001265Hyporeflexia0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0001265HP:0001265Hyporeflexia0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0001265HP:0001265Hyporeflexia0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040281 - Very frequent62
HP:0001265HP:0001265Hyporeflexia0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0001265HP:0001265Hyporeflexia0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0001265HP:0001265Hyporeflexia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0001265HP:0001265Hyporeflexia0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0001265HP:0001265Hyporeflexia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001265HP:0001265Hyporeflexia0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0001265HP:0001265Hyporeflexia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001265HP:0001265Hyporeflexia0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0001265HP:0001265Hyporeflexia0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001265HP:0001265Hyporeflexia0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001265HP:0001265Hyporeflexia0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001265HP:0001265Hyporeflexia0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001265HP:0001265Hyporeflexia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001265HP:0001265Hyporeflexia0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0001265HP:0001265Hyporeflexia0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0001265HP:0001265Hyporeflexia0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0001265HP:0001265Hyporeflexia0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040282 - Frequent1361
HP:0001265HP:0001265Hyporeflexia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001265HP:0001265Hyporeflexia0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0001265HP:0001265Hyporeflexia0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0001265HP:0001265Hyporeflexia0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H.158
HP:0001265HP:0001265Hyporeflexia0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001265HP:0001265Hyporeflexia0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0001265HP:0001265Hyporeflexia0FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe.68
HP:0001265HP:0001265Hyporeflexia0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0001265HP:0001265Hyporeflexia0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0001265HP:0001265Hyporeflexia0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0001265HP:0001265Hyporeflexia0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0001265HP:0001265Hyporeflexia0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0001265HP:0001265Hyporeflexia0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0001265HP:0001265Hyporeflexia0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0001265HP:0001265Hyporeflexia0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0001265HP:0001265Hyporeflexia0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0001265HP:0001265Hyporeflexia0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0001265HP:0001265Hyporeflexia0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001265HP:0001265Hyporeflexia0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0001265HP:0001265Hyporeflexia0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040282 - Frequent30
HP:0001265HP:0001265Hyporeflexia0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.105
HP:0001265HP:0001265Hyporeflexia0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0001265HP:0001265Hyporeflexia0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0001265HP:0001265Hyporeflexia0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001265HP:0001265Hyporeflexia0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0001265HP:0001265Hyporeflexia0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0001265HP:0001265Hyporeflexia0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0001265HP:0001265Hyporeflexia0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0001265HP:0001265Hyporeflexia0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0001265HP:0001265Hyporeflexia0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0001265HP:0001265Hyporeflexia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A.
HP:0001265HP:0001265Hyporeflexia0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0001265HP:0001265Hyporeflexia0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001265HP:0001265Hyporeflexia0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0001265HP:0001265Hyporeflexia0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0001265HP:0001265Hyporeflexia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0001265HP:0001265Hyporeflexia0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0001265HP:0001265Hyporeflexia0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0001265HP:0001265Hyporeflexia0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0001265HP:0001265Hyporeflexia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0001265HP:0001265Hyporeflexia0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0001265HP:0001265Hyporeflexia0GNB4 CL E G H5934520731OMIM:615185Charcot-Marie-Tooth disease, dominant intermediate F.12
HP:0001265HP:0001265Hyporeflexia0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001265HP:0001265Hyporeflexia0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0001265HP:0001265Hyporeflexia0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001265HP:0001265Hyporeflexia0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0001265HP:0001265Hyporeflexia0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001265HP:0001265Hyporeflexia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001265HP:0001265Hyporeflexia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001265HP:0001265Hyporeflexia0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0001265HP:0001265Hyporeflexia0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0001265HP:0001265Hyporeflexia0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0001265HP:0001265Hyporeflexia0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0001265HP:0001265Hyporeflexia0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0001265HP:0001265Hyporeflexia0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type.11
HP:0001265HP:0001265Hyporeflexia0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001265HP:0001265Hyporeflexia0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0001265HP:0001265Hyporeflexia0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1HP:0040283 - Occasional98
HP:0001265HP:0001265Hyporeflexia0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0001265HP:0001265Hyporeflexia0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB47
HP:0001265HP:0001265Hyporeflexia0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0001265HP:0001265Hyporeflexia0HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA38
HP:0001265HP:0001265Hyporeflexia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0001265HP:0001265Hyporeflexia0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001265HP:0001265Hyporeflexia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0001265HP:0001265Hyporeflexia0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0001265HP:0001265Hyporeflexia0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0001265HP:0001265Hyporeflexia0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S.209
HP:0001265HP:0001265Hyporeflexia0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001265HP:0001265Hyporeflexia0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0001265HP:0001265Hyporeflexia0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040283 - Occasional7
HP:0001265HP:0001265Hyporeflexia0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0001265HP:0001265Hyporeflexia0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0001265HP:0001265Hyporeflexia0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0001265HP:0001265Hyporeflexia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0001265HP:0001265Hyporeflexia0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001265HP:0001265Hyporeflexia0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0001265HP:0001265Hyporeflexia0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0001265HP:0001265Hyporeflexia0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040282 - Frequent35
HP:0001265HP:0001265Hyporeflexia0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent10
HP:0001265HP:0001265Hyporeflexia0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 210
HP:0001265HP:0001265Hyporeflexia0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0001265HP:0001265Hyporeflexia0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0001265HP:0001265Hyporeflexia0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC.276
HP:0001265HP:0001265Hyporeflexia0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0001265HP:0001265Hyporeflexia0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0001265HP:0001265Hyporeflexia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0001265HP:0001265Hyporeflexia0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0001265HP:0001265Hyporeflexia0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0001265HP:0001265Hyporeflexia0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0001265HP:0001265Hyporeflexia0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0001265HP:0001265Hyporeflexia0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0001265HP:0001265Hyporeflexia0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0001265HP:0001265Hyporeflexia0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0001265HP:0001265Hyporeflexia0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0001265HP:0001265Hyporeflexia0LGI3 CL E G H20319018711OMIM:620007
HP:0001265HP:0001265Hyporeflexia0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0001265HP:0001265Hyporeflexia0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0001265HP:0001265Hyporeflexia0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0001265HP:0001265Hyporeflexia0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0001265HP:0001265Hyporeflexia0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0001265HP:0001265Hyporeflexia0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0001265HP:0001265Hyporeflexia0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0001265HP:0001265Hyporeflexia0LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17.124
HP:0001265HP:0001265Hyporeflexia0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia1
HP:0001265HP:0001265Hyporeflexia0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0001265HP:0001265Hyporeflexia0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0001265HP:0001265Hyporeflexia0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040282 - Frequent4
HP:0001265HP:0001265Hyporeflexia0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0001265HP:0001265Hyporeflexia0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0001265HP:0001265Hyporeflexia0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51HP:0040283 - Occasional4
HP:0001265HP:0001265Hyporeflexia0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0001265HP:0001265Hyporeflexia0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001265HP:0001265Hyporeflexia0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0001265HP:0001265Hyporeflexia0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0001265HP:0001265Hyporeflexia0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0001265HP:0001265Hyporeflexia0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0001265HP:0001265Hyporeflexia0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0001265HP:0001265Hyporeflexia0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0001265HP:0001265Hyporeflexia0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0001265HP:0001265Hyporeflexia0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0001265HP:0001265Hyporeflexia0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0001265HP:0001265Hyporeflexia0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0001265HP:0001265Hyporeflexia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001265HP:0001265Hyporeflexia0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE.56
HP:0001265HP:0001265Hyporeflexia0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J.134
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0001265HP:0001265Hyporeflexia0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0001265HP:0001265Hyporeflexia0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001265HP:0001265Hyporeflexia0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040283 - Occasional19
HP:0001265HP:0001265Hyporeflexia0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.HP:0003584 - Late onset19
HP:0001265HP:0001265Hyporeflexia0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0001265HP:0001265Hyporeflexia0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0001265HP:0001265Hyporeflexia0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0001265HP:0001265Hyporeflexia0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0001265HP:0001265Hyporeflexia0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0001265HP:0001265Hyporeflexia0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040281 - Very frequent75
HP:0001265HP:0001265Hyporeflexia0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0001265HP:0001265Hyporeflexia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0001265HP:0001265Hyporeflexia0NAGLU CL E G H46697632OMIM:616491Charcot-Marie-Tooth disease, axonal, type 2V.72
HP:0001265HP:0001265Hyporeflexia0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001265HP:0001265Hyporeflexia0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001265HP:0001265Hyporeflexia0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0001265HP:0001265Hyporeflexia0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0001265HP:0001265Hyporeflexia0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0001265HP:0001265Hyporeflexia0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0001265HP:0001265Hyporeflexia0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0001265HP:0001265Hyporeflexia0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0001265HP:0001265Hyporeflexia0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001265HP:0001265Hyporeflexia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0001265HP:0001265Hyporeflexia0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001265HP:0001265Hyporeflexia0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001265HP:0001265Hyporeflexia0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001265HP:0001265Hyporeflexia0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent8
HP:0001265HP:0001265Hyporeflexia0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0OTOG CL E G H3409908516OMIM:614945Deafness, autosomal recessive 18B.165
HP:0001265HP:0001265Hyporeflexia0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional26
HP:0001265HP:0001265Hyporeflexia0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent14
HP:0001265HP:0001265Hyporeflexia0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0001265HP:0001265Hyporeflexia0PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 6.4
HP:0001265HP:0001265Hyporeflexia0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional169
HP:0001265HP:0001265Hyporeflexia0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001265HP:0001265Hyporeflexia0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6BHP:0040283 - Occasional75
HP:0001265HP:0001265Hyporeflexia0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0001265HP:0001265Hyporeflexia0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0001265HP:0001265Hyporeflexia0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0001265HP:0001265Hyporeflexia0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional98
HP:0001265HP:0001265Hyporeflexia0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0001265HP:0001265Hyporeflexia0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 23.15
HP:0001265HP:0001265Hyporeflexia0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0001265HP:0001265Hyporeflexia0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001265HP:0001265Hyporeflexia0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040282 - Frequent7
HP:0001265HP:0001265Hyporeflexia0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0001265HP:0001265Hyporeflexia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0001265HP:0001265Hyporeflexia0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0001265HP:0001265Hyporeflexia0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0001265HP:0001265Hyporeflexia0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001265HP:0001265Hyporeflexia0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0001265HP:0001265Hyporeflexia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040282 - Frequent79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsiesHP:0040283 - Occasional79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies.79
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0001265HP:0001265Hyporeflexia0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2HP:0040283 - Occasional7
HP:0001265HP:0001265Hyporeflexia0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0001265HP:0001265Hyporeflexia0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delayHP:0040283 - Occasional244
HP:0001265HP:0001265Hyporeflexia0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0001265HP:0001265Hyporeflexia0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0001265HP:0001265Hyporeflexia0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0001265HP:0001265Hyporeflexia0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001265HP:0001265Hyporeflexia0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0001265HP:0001265Hyporeflexia0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0001265HP:0001265Hyporeflexia0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0001265HP:0001265Hyporeflexia0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.18
HP:0001265HP:0001265Hyporeflexia0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0001265HP:0001265Hyporeflexia0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0001265HP:0001265Hyporeflexia0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0001265HP:0001265Hyporeflexia0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0001265HP:0001265Hyporeflexia0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0001265HP:0001265Hyporeflexia0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0001265HP:0001265Hyporeflexia0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001265HP:0001265Hyporeflexia0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001265HP:0001265Hyporeflexia0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0001265HP:0001265Hyporeflexia0PRDM13 CL E G H5933613998OMIM:6199092
HP:0001265HP:0001265Hyporeflexia0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0001265HP:0001265Hyporeflexia0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 1483
HP:0001265HP:0001265Hyporeflexia0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0001265HP:0001265Hyporeflexia0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0001265HP:0001265Hyporeflexia0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesisHP:0040284 - Very rare22
HP:0001265HP:0001265Hyporeflexia0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001265HP:0001265Hyporeflexia0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0001265HP:0001265Hyporeflexia0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0001265HP:0001265Hyporeflexia0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0001265HP:0001265Hyporeflexia0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001265HP:0001265Hyporeflexia0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0001265HP:0001265Hyporeflexia0REEP1 CL E G H6505525786OMIM:62001187
HP:0001265HP:0001265Hyporeflexia0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB.87
HP:0001265HP:0001265Hyporeflexia0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0001265HP:0001265Hyporeflexia0RETREG1 CL E G H5446325964OMIM:613115Neuropathy, hereditary sensory and autonomic, type IIB.54
HP:0001265HP:0001265Hyporeflexia0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0001265HP:0001265Hyporeflexia0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0001265HP:0001265Hyporeflexia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001265HP:0001265Hyporeflexia0RNF170 CL E G H8179025358OMIM:608984Ataxia, sensory, autosomal dominant.3
HP:0001265HP:0001265Hyporeflexia0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001265HP:0001265Hyporeflexia0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5HP:0040283 - Occasional125
HP:0001265HP:0001265Hyporeflexia0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional77
HP:0001265HP:0001265Hyporeflexia0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040281 - Very frequent9
HP:0001265HP:0001265Hyporeflexia0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001265HP:0001265Hyporeflexia0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0001265HP:0001265Hyporeflexia0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040281 - Very frequent1200
HP:0001265HP:0001265Hyporeflexia0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0001265HP:0001265Hyporeflexia0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0001265HP:0001265Hyporeflexia0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0001265HP:0001265Hyporeflexia0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent70
HP:0001265HP:0001265Hyporeflexia0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent357
HP:0001265HP:0001265Hyporeflexia0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0001265HP:0001265Hyporeflexia0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001265HP:0001265Hyporeflexia0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0001265HP:0001265Hyporeflexia0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040282 - Frequent144
HP:0001265HP:0001265Hyporeflexia0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgicHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0001265HP:0001265Hyporeflexia0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome.HP:0003623 - Neonatal onset53
HP:0001265HP:0001265Hyporeflexia0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0001265HP:0001265Hyporeflexia0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040283 - Occasional67
HP:0001265HP:0001265Hyporeflexia0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent73
HP:0001265HP:0001265Hyporeflexia0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0001265HP:0001265Hyporeflexia0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001265HP:0001265Hyporeflexia0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0001265HP:0001265Hyporeflexia0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0001265HP:0001265Hyporeflexia0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0001265HP:0001265Hyporeflexia0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001265HP:0001265Hyporeflexia0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant.68
HP:0001265HP:0001265Hyporeflexia0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0001265HP:0001265Hyporeflexia0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0001265HP:0001265Hyporeflexia0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0001265HP:0001265Hyporeflexia0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0001265HP:0001265Hyporeflexia0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0001265HP:0001265Hyporeflexia0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0001265HP:0001265Hyporeflexia0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0001265HP:0001265Hyporeflexia0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0001265HP:0001265Hyporeflexia0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0001265HP:0001265Hyporeflexia0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0001265HP:0001265Hyporeflexia0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0001265HP:0001265Hyporeflexia0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001265HP:0001265Hyporeflexia0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0001265HP:0001265Hyporeflexia0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0001265HP:0001265Hyporeflexia0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0001265HP:0001265Hyporeflexia0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA.54
HP:0001265HP:0001265Hyporeflexia0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0001265HP:0001265Hyporeflexia0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0001265HP:0001265Hyporeflexia0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0001265HP:0001265Hyporeflexia0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0001265HP:0001265Hyporeflexia0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0001265HP:0001265Hyporeflexia0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 131
HP:0001265HP:0001265Hyporeflexia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0001265HP:0001265Hyporeflexia0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0001265HP:0001265Hyporeflexia0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0001265HP:0001265Hyporeflexia0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0001265HP:0001265Hyporeflexia0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001265HP:0001265Hyporeflexia0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent108
HP:0001265HP:0001265Hyporeflexia0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent9
HP:0001265HP:0001265Hyporeflexia0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent9
HP:0001265HP:0001265Hyporeflexia0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic.4
HP:0001265HP:0001265Hyporeflexia0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0001265HP:0001265Hyporeflexia0SZT2 CL E G H2333429040OMIM:615476Epileptic encephalopathy, early infantile, 18.123
HP:0001265HP:0001265Hyporeflexia0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent123
HP:0001265HP:0001265Hyporeflexia0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001265HP:0001265Hyporeflexia0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0001265HP:0001265Hyporeflexia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001265HP:0001265Hyporeflexia0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001265HP:0001265Hyporeflexia0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0001265HP:0001265Hyporeflexia0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0001265HP:0001265Hyporeflexia0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0001265HP:0001265Hyporeflexia0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0001265HP:0001265Hyporeflexia0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0001265HP:0001265Hyporeflexia0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional238
HP:0001265HP:0001265Hyporeflexia0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0001265HP:0001265Hyporeflexia0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional60
HP:0001265HP:0001265Hyporeflexia0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0001265HP:0001265Hyporeflexia0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0001265HP:0001265Hyporeflexia0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0001265HP:0001265Hyporeflexia0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0001265HP:0001265Hyporeflexia0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0001265HP:0001265Hyporeflexia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0001265HP:0001265Hyporeflexia0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0001265HP:0001265Hyporeflexia0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0001265HP:0001265Hyporeflexia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0001265HP:0001265Hyporeflexia0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0001265HP:0001265Hyporeflexia0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0001265HP:0001265Hyporeflexia0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0001265HP:0001265Hyporeflexia0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0001265HP:0001265Hyporeflexia0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0001265HP:0001265Hyporeflexia0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0001265HP:0001265Hyporeflexia0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent101
HP:0001265HP:0001265Hyporeflexia0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0001265HP:0001265Hyporeflexia0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001265HP:0001265Hyporeflexia0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0001265HP:0001265Hyporeflexia0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0001265HP:0001265Hyporeflexia0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0001265HP:0001265Hyporeflexia0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F3
HP:0001265HP:0001265Hyporeflexia0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0001265HP:0001265Hyporeflexia0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97
HP:0001265HP:0001265Hyporeflexia0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0001265HP:0001265Hyporeflexia0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040281 - Very frequent21
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5.113
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0001265HP:0001265Hyporeflexia0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001265HP:0001265Hyporeflexia0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0001265HP:0001265Hyporeflexia0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included.116
HP:0001265HP:0001265Hyporeflexia0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0001265HP:0001265Hyporeflexia0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0001265HP:0001265Hyporeflexia0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0001265HP:0001265Hyporeflexia0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001265HP:0001265Hyporeflexia0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0001265HP:0001265Hyporeflexia0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001265HP:0001265Hyporeflexia0WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX.
HP:0001265HP:0001265Hyporeflexia0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001265HP:0001265Hyporeflexia0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0001265HP:0001265Hyporeflexia0WWOX CL E G H5174112799ORPHA:284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiencyHP:0040281 - Very frequent149
HP:0001265HP:0001265Hyporeflexia0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent149
HP:0001265HP:0001265Hyporeflexia0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0001265HP:0001265Hyporeflexia0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0001265HP:0001265Hyporeflexia0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001265HP:0001265Hyporeflexia0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0001265HP:0012392Jaw hyporeflexia1 CL E G H
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0001265HP:0002600Hyporeflexia of lower limbs1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001265HP:0002600Hyporeflexia of lower limbs1ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF.5
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0001265HP:0002600Hyporeflexia of lower limbs1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001265HP:0002600Hyporeflexia of lower limbs1CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0001265HP:0002600Hyporeflexia of lower limbs1DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0001265HP:0002600Hyporeflexia of lower limbs1DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0001265HP:0002600Hyporeflexia of lower limbs1DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0001265HP:0002600Hyporeflexia of lower limbs1FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0001265HP:0002600Hyporeflexia of lower limbs1FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0001265HP:0002600Hyporeflexia of lower limbs1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0001265HP:0002600Hyporeflexia of lower limbs1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040281 - Very frequent197
HP:0001265HP:0002600Hyporeflexia of lower limbs1FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0001265HP:0002600Hyporeflexia of lower limbs1GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0001265HP:0002600Hyporeflexia of lower limbs1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001265HP:0012391Hyporeflexia of upper limbs1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001265HP:0002600Hyporeflexia of lower limbs1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0001265HP:0002600Hyporeflexia of lower limbs1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0001265HP:0002600Hyporeflexia of lower limbs1HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0001265HP:0002600Hyporeflexia of lower limbs1HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0001265HP:0002600Hyporeflexia of lower limbs1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0001265HP:0002600Hyporeflexia of lower limbs1IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040282 - Frequent1
HP:0001265HP:0002600Hyporeflexia of lower limbs1KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0001265HP:0002600Hyporeflexia of lower limbs1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0001265HP:0002600Hyporeflexia of lower limbs1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0001265HP:0002600Hyporeflexia of lower limbs1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0001265HP:0002600Hyporeflexia of lower limbs1MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0001265HP:0002600Hyporeflexia of lower limbs1MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0001265HP:0002600Hyporeflexia of lower limbs1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0001265HP:0002600Hyporeflexia of lower limbs1MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0001265HP:0012391Hyporeflexia of upper limbs1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0001265HP:0002600Hyporeflexia of lower limbs1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0001265HP:0002600Hyporeflexia of lower limbs1PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0001265HP:0002600Hyporeflexia of lower limbs1RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001265HP:0012391Hyporeflexia of upper limbs1RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001265HP:0012391Hyporeflexia of upper limbs1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0001265HP:0002600Hyporeflexia of lower limbs1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0001265HP:0012391Hyporeflexia of upper limbs1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001265HP:0002600Hyporeflexia of lower limbs1STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0001265HP:0012391Hyporeflexia of upper limbs1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0001265HP:0033202Brachioradialis hyporeflexia2 CL E G H
HP:0001265HP:0033201Biceps hyporeflexia2 CL E G H
HP:0001265HP:0033200Triceps hyporeflexia2 CL E G H
HP:0001265HP:0009072Decreased Achilles reflex2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040283 - Occasional
HP:0001265HP:0011808Decreased patellar reflex2BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001265HP:0009072Decreased Achilles reflex2BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001265HP:0009072Decreased Achilles reflex2CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0001265HP:0011808Decreased patellar reflex2DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0001265HP:0009072Decreased Achilles reflex2DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0001265HP:0011808Decreased patellar reflex2FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0001265HP:0009072Decreased Achilles reflex2FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0001265HP:0009072Decreased Achilles reflex2GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001265HP:0011808Decreased patellar reflex2HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001265HP:0011808Decreased patellar reflex2HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001265HP:0009072Decreased Achilles reflex2IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0001265HP:0011808Decreased patellar reflex2LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0001265HP:0009072Decreased Achilles reflex2LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0001265HP:0011808Decreased patellar reflex2MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0001265HP:0009072Decreased Achilles reflex2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269
HP:0001265HP:0011808Decreased patellar reflex2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269


Genes (398) :AARS1 AARS2 ABCA1 ABHD12 ACAT1 ACD ACO2 ACOX1 ACTA1 ACTL6B ADSS1 AGRN AGTPBP1 AIFM1 ALDH5A1 AMT ANXA11 AP3B2 APTX AR ARHGEF2 ARSA ARV1 ATL3 ATN1 ATP1A1 ATP1A2 ATP1A3 ATP6 ATP6AP2 ATP6V1A ATP6V1B2 ATP7A ATXN1 ATXN10 ATXN2 B3GALNT2 B4GALNT1 B4GAT1 BAG3 BEAN1 BICD2 BSND C19ORF12 C9ORF72 CACNA1A CACNA1B CACNA1S CACNA2D1 CARS1 CDK19 CELF2 CFL2 CHAT CHCHD10 CLCNKA CLCNKB CLTC CNBP CNKSR2 CNTNAP1 CNTNAP2 COA7 COASY COG7 COL13A1 COL4A1 COLQ COX6A1 COX8A CRPPA CRYAB CYFIP2 DAG1 DALRD3 DARS2 DBH DCAF8 DEAF1 DES DGUOK DHDDS DHH DHTKD1 DKC1 DMD DNAJC6 DNM1 DNM2 DNMT1 DOCK3 DPAGT1 DUOX2 DUOXA2 DYNC1H1 DYSF EEF1A2 EGR2 ELOVL4 ELP1 EMC1 ERCC2 ERCC3 ERCC6 EXOSC1 EXOSC3 EXOSC8 EXOSC9 EXTL3 FASTKD2 FBLN5 FBN1 FBXO28 FBXO38 FDX2 FGD4 FGF12 FGF13 FHL1 FIG4 FKRP FKTN FLI1 FLII FLNC FLRT1 FMR1 FUS FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GALC GAN GARS1 GBA1 GBF1 GCSH GDAP1 GEMIN4 GJB1 GLDC GNAS GNB4 GNPTAB GRIA3 GRIN2A GRIN2D GTF2E2 GTF2H5 HADHA HADHB HCN1 HDAC4 HESX1 HK1 HMGCL HNRNPDL HSD17B4 HSPB1 HSPB8 HSPG2 IARS2 IBA57 IFRD1 IGHMBP2 INF2 INPP5K IQSEC2 IYD KARS1 KBTBD13 KCNA2 KCNB1 KCND3 KCNJ18 KIAA0586 KIF1A KIF1B KLC2 KLHL41 KY LAMB2 LARGE1 LDB3 LGI3 LHX3 LHX4 LITAF LMNA LMOD3 LPIN1 LRP4 LRRK1 LRSAM1 LYST MAG MCM3AP MDH2 MED25 MEGF10 MFN2 MGME1 MME MORC2 MPLKIP MPV17 MPZ MRE11 MSTO1 MTPAP MYH14 MYH7 MYO9A MYOT MYPN NAGLU NARS1 NARS2 ND1 ND2 ND3 ND4 ND5 ND6 NDRG1 NDUFA1 NDUFA9 NDUFS4 NEB NECAP1 NEFH NEFL NFASC NGLY1 NOTCH2NLC NTRK2 NUS1 OTOG PARN PARS2 PDHB PDK3 PEX1 PEX10 PEX12 PEX2 PEX5 PEX6 PEX7 PGM3 PHYH PIGB PIGG PIGN PIK3R5 PLP1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPT1 PODXL POLG POLG2 POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPOX PPP1R21 PPP3CA PRDM12 PRDM13 PRKCG PROP1 PRX PSAP PTF1A PTRH2 PYROXD1 QRICH1 RAB7A RAI1 REEP1 RETREG1 RFC1 RMND1 RNF113A RNF170 RRM2B RTEL1 RUBCN RXYLT1 RYR1 SBF2 SCN3A SCN8A SCN9A SCYL1 SELENON SEPTIN9 SETX SHANK3 SIGMAR1 SIL1 SLC13A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A4 SLC25A46 SLC35A1 SLC38A3 SLC5A5 SLC5A7 SMN1 SMN2 SMPD1 SNAP25 SNIP1 SNRPN SNX14 SOX10 SPTLC1 SPTLC2 SQSTM1 ST3GAL5 STAC3 STIM1 STX16 SUCLA2 SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TAOK1 TARDBP TARS1 TBC1D23 TBC1D24 TBCK TBK1 TDP1 TERT TG TINF2 TK2 TMCO1 TMEM240 TPI1 TPM2 TPM3 TPO TRAK1 TRAPPC11 TRIM32 TRIM8 TRMT5 TRMU TRNE TRNK TRNL1 TRNV TRNW TRPV4 TSEN15 TSHB TSHR TSPYL1 TTR TUBA8 TWNK UBA5 VAMP1 VAPB VCP VPS13A VPS33A VRK1 VWA1 WARS1 WDR81 WNK1 WWOX XPA YWHAG ZSWIM6

Diseases (378) :OMIM:613287 ORPHA:442835 OMIM:614096 OMIM:205400 OMIM:612674 ORPHA:134 ORPHA:3322 OMIM:614559 OMIM:618960 ORPHA:171439 ORPHA:171433 OMIM:616852 OMIM:161800 ORPHA:97244 ORPHA:171436 ORPHA:482601 OMIM:617030 ORPHA:98914 ORPHA:2254 OMIM:300816 OMIM:271980 OMIM:605899 OMIM:619733 OMIM:617276 OMIM:208920 ORPHA:481 OMIM:313200 OMIM:617523 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:615632 ORPHA:101 OMIM:618036 ORPHA:255210 OMIM:300423 ORPHA:93952 ORPHA:79500 OMIM:300489 ORPHA:98755 ORPHA:98761 OMIM:183090 ORPHA:98756 ORPHA:899 ORPHA:101006 OMIM:609195 OMIM:612954 ORPHA:217012 ORPHA:363454 OMIM:615290 OMIM:602522 OMIM:614298 OMIM:615043 ORPHA:275872 ORPHA:79102 ORPHA:33364 OMIM:615911 ORPHA:276435 OMIM:615048 OMIM:613090 OMIM:602668 OMIM:618186 ORPHA:163681 OMIM:610042 OMIM:618387 OMIM:615643 ORPHA:79333 OMIM:608779 ORPHA:98915 OMIM:616039 OMIM:619059 ORPHA:399058 OMIM:608810 ORPHA:137898 OMIM:611105 OMIM:223360 OMIM:610100 ORPHA:819 OMIM:601419 OMIM:617070 OMIM:607080 OMIM:615025 OMIM:310200 OMIM:300376 ORPHA:391411 OMIM:606482 OMIM:614116 OMIM:618292 ORPHA:86309 ORPHA:95716 OMIM:614228 OMIM:614563 OMIM:158600 OMIM:254130 OMIM:145900 OMIM:133190 ORPHA:1955 ORPHA:1764 OMIM:223900 OMIM:616875 ORPHA:480898 OMIM:278730 OMIM:278800 OMIM:619304 OMIM:618065 ORPHA:508533 OMIM:618855 OMIM:608895 ORPHA:284979 OMIM:619777 OMIM:615575 OMIM:251900 OMIM:609311 OMIM:300718 OMIM:300717 OMIM:300695 OMIM:611228 OMIM:613153 OMIM:611588 ORPHA:370348 ORPHA:63273 OMIM:614065 ORPHA:320406 OMIM:300623 ORPHA:93256 OMIM:608030 OMIM:232300 ORPHA:206436 OMIM:256850 OMIM:601472 ORPHA:2072 OMIM:606483 ORPHA:99948 OMIM:608340 OMIM:214400 OMIM:617913 OMIM:302800 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:615185 OMIM:252500 OMIM:300699 ORPHA:364028 ORPHA:289266 ORPHA:746 OMIM:600430 ORPHA:226307 OMIM:605285 ORPHA:20 OMIM:609115 OMIM:233400 OMIM:606595 OMIM:608634 OMIM:608673 OMIM:158590 ORPHA:800 OMIM:255800 OMIM:616007 ORPHA:468661 ORPHA:98771 OMIM:616155 OMIM:604320 OMIM:614455 ORPHA:559 OMIM:613641 OMIM:607346 ORPHA:98772 OMIM:613239 OMIM:616546 OMIM:201300 OMIM:614213 OMIM:118210 OMIM:617114 OMIM:609049 ORPHA:98912 OMIM:609452 OMIM:620007 OMIM:601098 ORPHA:98855 OMIM:605588 OMIM:268200 OMIM:616304 OMIM:615198 OMIM:614436 OMIM:214500 ORPHA:459056 OMIM:616680 OMIM:618124 OMIM:617339 OMIM:605589 OMIM:614399 OMIM:617087 OMIM:609260 OMIM:601152 OMIM:615084 ORPHA:352447 OMIM:617017 OMIM:617018 ORPHA:497764 OMIM:616688 OMIM:619090 OMIM:618400 OMIM:256810 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 OMIM:618184 OMIM:180800 OMIM:604391 ORPHA:502423 OMIM:617675 ORPHA:254343 OMIM:613672 OMIM:614369 ORPHA:397744 ORPHA:437572 OMIM:160500 ORPHA:98911 OMIM:609200 OMIM:616491 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:601455 OMIM:301020 OMIM:618247 OMIM:252010 OMIM:256030 OMIM:616924 ORPHA:99939 OMIM:607684 OMIM:607734 OMIM:617882 OMIM:618356 ORPHA:404454 OMIM:615273 OMIM:603472 OMIM:619473 OMIM:614945 OMIM:614111 OMIM:300905 ORPHA:3220 OMIM:214100 OMIM:614871 OMIM:266510 OMIM:614867 OMIM:616716 OMIM:266500 OMIM:615816 OMIM:618580 ORPHA:488635 OMIM:616917 ORPHA:280633 OMIM:614080 OMIM:615217 OMIM:312080 OMIM:212065 ORPHA:79318 ORPHA:98916 OMIM:118300 ORPHA:101081 ORPHA:90658 OMIM:118220 ORPHA:640 OMIM:162500 OMIM:213200 OMIM:613402 OMIM:215470 OMIM:614932 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:619742 OMIM:616094 OMIM:613156 ORPHA:79473 OMIM:619383 OMIM:616488 OMIM:619909 OMIM:619761 ORPHA:98763 OMIM:611722 OMIM:249900 OMIM:609069 OMIM:616263 OMIM:617258 OMIM:617982 OMIM:600882 OMIM:182290 OMIM:620011 OMIM:614751 OMIM:613115 OMIM:614575 OMIM:614922 OMIM:608984 OMIM:613077 ORPHA:404499 OMIM:615705 ORPHA:324581 OMIM:117000 ORPHA:178145 OMIM:604563 ORPHA:466794 OMIM:616719 OMIM:162100 OMIM:606002 OMIM:606232 OMIM:605726 OMIM:618197 OMIM:613710 OMIM:617184 OMIM:616505 OMIM:603585 OMIM:158580 OMIM:253400 OMIM:257200 OMIM:614501 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:609136 OMIM:162400 OMIM:613640 OMIM:616437 OMIM:609056 OMIM:255995 OMIM:160565 OMIM:612073 ORPHA:1933 OMIM:618484 ORPHA:319332 OMIM:616040 OMIM:615476 OMIM:619575 OMIM:617695 OMIM:220500 OMIM:616900 OMIM:616439 OMIM:607250 ORPHA:254875 OMIM:213980 OMIM:607454 OMIM:615512 OMIM:609285 ORPHA:369840 OMIM:254110 OMIM:619428 OMIM:616539 ORPHA:254864 ORPHA:2596 OMIM:606071 OMIM:181405 OMIM:600175 OMIM:617026 ORPHA:90674 ORPHA:90673 ORPHA:168593 OMIM:105210 ORPHA:250972 OMIM:616138 OMIM:609286 OMIM:182980 OMIM:200150 ORPHA:505248 OMIM:617303 OMIM:619216 OMIM:617721 OMIM:610185 ORPHA:284282 OMIM:614322 OMIM:278700 OMIM:617865
 

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