Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Functional motor deficit (HP:0004302)help
Parent Node:
expand
Gait disturbance (HP:0001288)help
..Starting node
..expand
Difficulty walking (HP:0002355)help
Term ID: 2355
Name: Difficulty walking
Synonym: Difficulty in walking; Difficulty walking; Walking disability
Definition: Reduced ability to walk (ambulate).
Comments:
Reference: HP:0002355
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad-based gait (HP:0002136) help
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandCock-walk gait (HP:0031848) help
..expandDifficulty walking backward (HP:0031847) help
..expandFalls (HP:0002527) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait ataxia (HP:0002066) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandobsolete Toe walking (HP:0040083) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) 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:0002355HP:0002355Difficulty walking0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002355HP:0002355Difficulty walking0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0002355HP:0002355Difficulty walking0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0002355HP:0002355Difficulty walking0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0002355HP:0002355Difficulty walking0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0002355HP:0002355Difficulty walking0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0002355HP:0002355Difficulty walking0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002355HP:0002355Difficulty walking0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002355HP:0002355Difficulty walking0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0002355HP:0002355Difficulty walking0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0002355HP:0002355Difficulty walking0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0002355HP:0002355Difficulty walking0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0002355HP:0002355Difficulty walking0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0002355HP:0002355Difficulty walking0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 15.12
HP:0002355HP:0002355Difficulty walking0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0002355HP:0002355Difficulty walking0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002355HP:0002355Difficulty walking0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0002355HP:0002355Difficulty walking0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040282 - Frequent304
HP:0002355HP:0002355Difficulty walking0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002355HP:0002355Difficulty walking0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0002355HP:0002355Difficulty walking0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0002355HP:0002355Difficulty walking0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0002355HP:0002355Difficulty walking0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0002355HP:0002355Difficulty walking0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0002355HP:0002355Difficulty walking0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 61HP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002355HP:0002355Difficulty walking0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002355HP:0002355Difficulty walking0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0002355HP:0002355Difficulty walking0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0002355HP:0002355Difficulty walking0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0002355HP:0002355Difficulty walking0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0002355HP:0002355Difficulty walking0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0002355HP:0002355Difficulty walking0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0002355HP:0002355Difficulty walking0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0002355HP:0002355Difficulty walking0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002355HP:0002355Difficulty walking0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0002355HP:0002355Difficulty walking0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0002355HP:0002355Difficulty walking0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0002355HP:0002355Difficulty walking0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040282 - Frequent46
HP:0002355HP:0002355Difficulty walking0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0002355HP:0002355Difficulty walking0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0002355HP:0002355Difficulty walking0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 25HP:0040284 - Very rare2
HP:0002355HP:0002355Difficulty walking0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0002355HP:0002355Difficulty walking0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0002355HP:0002355Difficulty walking0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002355HP:0002355Difficulty walking0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0002355HP:0002355Difficulty walking0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0002355HP:0002355Difficulty walking0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0002355HP:0002355Difficulty walking0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0002355HP:0002355Difficulty walking0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0002355HP:0002355Difficulty walking0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0002355HP:0002355Difficulty walking0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0002355HP:0002355Difficulty walking0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0002355HP:0002355Difficulty walking0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0002355HP:0002355Difficulty walking0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0002355HP:0002355Difficulty walking0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002355HP:0002355Difficulty walking0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0002355HP:0002355Difficulty walking0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0002355HP:0002355Difficulty walking0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0002355HP:0002355Difficulty walking0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0002355HP:0002355Difficulty walking0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0002355HP:0002355Difficulty walking0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0002355HP:0002355Difficulty walking0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0002355HP:0002355Difficulty walking0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0002355HP:0002355Difficulty walking0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0002355HP:0002355Difficulty walking0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0002355HP:0002355Difficulty walking0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0002355HP:0002355Difficulty walking0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0002355HP:0002355Difficulty walking0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002355HP:0002355Difficulty walking0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002355HP:0002355Difficulty walking0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040282 - Frequent41
HP:0002355HP:0002355Difficulty walking0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0002355HP:0002355Difficulty walking0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040282 - Frequent5
HP:0002355HP:0002355Difficulty walking0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0002355HP:0002355Difficulty walking0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0002355HP:0002355Difficulty walking0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0002355HP:0002355Difficulty walking0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0002355HP:0002355Difficulty walking0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002355HP:0002355Difficulty walking0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040282 - Frequent263
HP:0002355HP:0002355Difficulty walking0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0002355HP:0002355Difficulty walking0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q.12
HP:0002355HP:0002355Difficulty walking0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040281 - Very frequent82
HP:0002355HP:0002355Difficulty walking0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040281 - Very frequent1496
HP:0002355HP:0002355Difficulty walking0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0002355HP:0002355Difficulty walking0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0002355HP:0002355Difficulty walking0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0002355HP:0002355Difficulty walking0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0002355HP:0002355Difficulty walking0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0002355HP:0002355Difficulty walking0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0002355HP:0002355Difficulty walking0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0002355HP:0002355Difficulty walking0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0002355HP:0002355Difficulty walking0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0002355HP:0002355Difficulty walking0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0002355HP:0002355Difficulty walking0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0002355HP:0002355Difficulty walking0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040281 - Very frequent4
HP:0002355HP:0002355Difficulty walking0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent20
HP:0002355HP:0002355Difficulty walking0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0002355HP:0002355Difficulty walking0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0002355HP:0002355Difficulty walking0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent199
HP:0002355HP:0002355Difficulty walking0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0002355HP:0002355Difficulty walking0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0002355HP:0002355Difficulty walking0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent55
HP:0002355HP:0002355Difficulty walking0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0002355HP:0002355Difficulty walking0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0002355HP:0002355Difficulty walking0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040281 - Very frequent76
HP:0002355HP:0002355Difficulty walking0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0002355HP:0002355Difficulty walking0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0002355HP:0002355Difficulty walking0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0002355HP:0002355Difficulty walking0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002355HP:0002355Difficulty walking0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002355HP:0002355Difficulty walking0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0002355HP:0002355Difficulty walking0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0002355HP:0002355Difficulty walking0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0002355HP:0002355Difficulty walking0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040281 - Very frequent197
HP:0002355HP:0002355Difficulty walking0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0002355HP:0002355Difficulty walking0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0002355HP:0002355Difficulty walking0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0002355HP:0002355Difficulty walking0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0002355HP:0002355Difficulty walking0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002355HP:0002355Difficulty walking0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0002355HP:0002355Difficulty walking0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0002355HP:0002355Difficulty walking0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0002355HP:0002355Difficulty walking0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0002355HP:0002355Difficulty walking0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002355HP:0002355Difficulty walking0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040281 - Very frequent121
HP:0002355HP:0002355Difficulty walking0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040281 - Very frequent30
HP:0002355HP:0002355Difficulty walking0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0002355HP:0002355Difficulty walking0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0002355HP:0002355Difficulty walking0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0002355HP:0002355Difficulty walking0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040282 - Frequent37
HP:0002355HP:0002355Difficulty walking0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0002355HP:0002355Difficulty walking0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0002355HP:0002355Difficulty walking0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0002355HP:0002355Difficulty walking0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0002355HP:0002355Difficulty walking0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0002355HP:0002355Difficulty walking0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0002355HP:0002355Difficulty walking0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002355HP:0002355Difficulty walking0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 2.18
HP:0002355HP:0002355Difficulty walking0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0002355HP:0002355Difficulty walking0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0002355HP:0002355Difficulty walking0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0002355HP:0002355Difficulty walking0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0002355HP:0002355Difficulty walking0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type.11
HP:0002355HP:0002355Difficulty walking0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0002355HP:0002355Difficulty walking0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0002355HP:0002355Difficulty walking0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0002355HP:0002355Difficulty walking0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0002355HP:0002355Difficulty walking0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0002355HP:0002355Difficulty walking0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002355HP:0002355Difficulty walking0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002355HP:0002355Difficulty walking0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0002355HP:0002355Difficulty walking0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0002355HP:0002355Difficulty walking0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002355HP:0002355Difficulty walking0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0002355HP:0002355Difficulty walking0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0002355HP:0002355Difficulty walking0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040281 - Very frequent35
HP:0002355HP:0002355Difficulty walking0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0002355HP:0002355Difficulty walking0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0002355HP:0002355Difficulty walking0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0002355HP:0002355Difficulty walking0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0002355HP:0002355Difficulty walking0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0002355HP:0002355Difficulty walking0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0002355HP:0002355Difficulty walking0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0002355HP:0002355Difficulty walking0LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17.124
HP:0002355HP:0002355Difficulty walking0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0002355HP:0002355Difficulty walking0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.HP:0003581 - Adult onset
HP:0002355HP:0002355Difficulty walking0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0002355HP:0002355Difficulty walking0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040283 - Occasional32
HP:0002355HP:0002355Difficulty walking0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0002355HP:0002355Difficulty walking0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0002355HP:0002355Difficulty walking0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0002355HP:0002355Difficulty walking0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0002355HP:0002355Difficulty walking0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs.14
HP:0002355HP:0002355Difficulty walking0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0002355HP:0002355Difficulty walking0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0002355HP:0002355Difficulty walking0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0002355HP:0002355Difficulty walking0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0002355HP:0002355Difficulty walking0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0002355HP:0002355Difficulty walking0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0002355HP:0002355Difficulty walking0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0002355HP:0002355Difficulty walking0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0002355HP:0002355Difficulty walking0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0002355HP:0002355Difficulty walking0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269
HP:0002355HP:0002355Difficulty walking0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0002355HP:0002355Difficulty walking0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002355HP:0002355Difficulty walking0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040281 - Very frequent75
HP:0002355HP:0002355Difficulty walking0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0002355HP:0002355Difficulty walking0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0002355HP:0002355Difficulty walking0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0002355HP:0002355Difficulty walking0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0002355HP:0002355Difficulty walking0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0002355HP:0002355Difficulty walking0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002355HP:0002355Difficulty walking0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0002355HP:0002355Difficulty walking0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress.51
HP:0002355HP:0002355Difficulty walking0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0002355HP:0002355Difficulty walking0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0002355HP:0002355Difficulty walking0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0002355HP:0002355Difficulty walking0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0002355HP:0002355Difficulty walking0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0002355HP:0002355Difficulty walking0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002355HP:0002355Difficulty walking0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0002355HP:0002355Difficulty walking0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0002355HP:0002355Difficulty walking0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0002355HP:0002355Difficulty walking0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0002355HP:0002355Difficulty walking0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0002355HP:0002355Difficulty walking0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0002355HP:0002355Difficulty walking0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0002355HP:0002355Difficulty walking0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0002355HP:0002355Difficulty walking0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107
HP:0002355HP:0002355Difficulty walking0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0002355HP:0002355Difficulty walking0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040282 - Frequent60
HP:0002355HP:0002355Difficulty walking0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0002355HP:0002355Difficulty walking0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0002355HP:0002355Difficulty walking0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040283 - Occasional60
HP:0002355HP:0002355Difficulty walking0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G.1
HP:0002355HP:0002355Difficulty walking0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0002355HP:0002355Difficulty walking0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0002355HP:0002355Difficulty walking0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0002355HP:0002355Difficulty walking0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0002355HP:0002355Difficulty walking0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040281 - Very frequent213
HP:0002355HP:0002355Difficulty walking0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040282 - Frequent221
HP:0002355HP:0002355Difficulty walking0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002355HP:0002355Difficulty walking0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0002355HP:0002355Difficulty walking0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002355HP:0002355Difficulty walking0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0002355HP:0002355Difficulty walking0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0002355HP:0002355Difficulty walking0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0002355HP:0002355Difficulty walking0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002355HP:0002355Difficulty walking0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002355HP:0002355Difficulty walking0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002355HP:0002355Difficulty walking0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002355HP:0002355Difficulty walking0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0002355HP:0002355Difficulty walking0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent25
HP:0002355HP:0002355Difficulty walking0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0002355HP:0002355Difficulty walking0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0002355HP:0002355Difficulty walking0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002355HP:0002355Difficulty walking0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002355HP:0002355Difficulty walking0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0002355HP:0002355Difficulty walking0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0002355HP:0002355Difficulty walking0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0002355HP:0002355Difficulty walking0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0002355HP:0002355Difficulty walking0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0002355HP:0002355Difficulty walking0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0002355HP:0002355Difficulty walking0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040281 - Very frequent493
HP:0002355HP:0002355Difficulty walking0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0002355HP:0002355Difficulty walking0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0002355HP:0002355Difficulty walking0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0002355HP:0002355Difficulty walking0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0002355HP:0002355Difficulty walking0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002355HP:0002355Difficulty walking0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0002355HP:0002355Difficulty walking0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0002355HP:0002355Difficulty walking0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0002355HP:0002355Difficulty walking0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0002355HP:0002355Difficulty walking0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0002355HP:0002355Difficulty walking0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0002355HP:0002355Difficulty walking0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0002355HP:0002355Difficulty walking0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0002355HP:0002355Difficulty walking0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0002355HP:0002355Difficulty walking0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0002355HP:0002355Difficulty walking0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0002355HP:0002355Difficulty walking0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0002355HP:0002355Difficulty walking0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0002355HP:0002355Difficulty walking0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0002355HP:0002355Difficulty walking0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0002355HP:0002355Difficulty walking0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040281 - Very frequent28
HP:0002355HP:0002355Difficulty walking0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0002355HP:0002355Difficulty walking0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent62
HP:0002355HP:0002355Difficulty walking0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0002355HP:0002355Difficulty walking0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040282 - Frequent14
HP:0002355HP:0002355Difficulty walking0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0002355HP:0002355Difficulty walking0SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0002355HP:0002355Difficulty walking0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0002355HP:0002355Difficulty walking0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0002355HP:0002355Difficulty walking0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0002355HP:0002355Difficulty walking0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0002355HP:0002355Difficulty walking0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0002355HP:0002355Difficulty walking0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0002355HP:0002355Difficulty walking0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0002355HP:0002355Difficulty walking0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0002355HP:0002355Difficulty walking0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0002355HP:0002355Difficulty walking0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0002355HP:0002355Difficulty walking0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent5
HP:0002355HP:0002355Difficulty walking0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0002355HP:0002355Difficulty walking0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002355HP:0002355Difficulty walking0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0002355HP:0002355Difficulty walking0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0002355HP:0002355Difficulty walking0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0002355HP:0002355Difficulty walking0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0002355HP:0002355Difficulty walking0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0002355HP:0002355Difficulty walking0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0002355HP:0002355Difficulty walking0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002355HP:0002355Difficulty walking0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0002355HP:0002355Difficulty walking0TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 11HP:0040281 - Very frequent57
HP:0002355HP:0002355Difficulty walking0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0002355HP:0002355Difficulty walking0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0002355HP:0002355Difficulty walking0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002355HP:0002355Difficulty walking0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent
HP:0002355HP:0002355Difficulty walking0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0002355HP:0002355Difficulty walking0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0002355HP:0002355Difficulty walking0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0002355HP:0002355Difficulty walking0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0002355HP:0002355Difficulty walking0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0002355HP:0002355Difficulty walking0WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX.
HP:0002355HP:0002355Difficulty walking0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0002355HP:0002355Difficulty walking0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040281 - Very frequent83
HP:0002355HP:0002355Difficulty walking0WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 60HP:0040282 - Frequent1
HP:0002355HP:0002355Difficulty walking0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0002355HP:0002355Difficulty walking0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0002355HP:0002355Difficulty walking0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional


Genes (301) :AARS1 ABCD1 ABHD5 ACOX1 ACTA1 ACTL6B ADAR ADCY5 AGRN AKT1 ALAD ALG14 ALG2 ALS2 ANO5 AOPEP AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARL6IP1 ARSA ARSI ARV1 ASAH1 ATP13A2 ATP1A2 ATP1A3 ATP5MC3 ATP6 ATP6V1A ATP7B B4GALNT1 BAP1 BICD2 BIN1 BSCL2 BVES C19ORF12 CACNA1A CACNA1B CACNA2D1 CAPN1 CAPN3 CCN6 CDK19 CDK8 CDKL5 CELF2 CHAT CHCHD10 CIZ1 CLTC CNKSR2 COASY COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COX1 COX3 CPT1C CRPPA CRYAB CSF1R CYFIP2 CYP27A1 CYP27B1 CYP2R1 DAG1 DALRD3 DARS2 DDHD1 DDX6 DES DHDDS DHTKD1 DLAT DMD DNA2 DNM1 DNM1L DNM2 DPAGT1 DYM DYSF EEF1A2 EIF2AK3 EIF2S3 ELOVL5 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 FA2H FBXO38 FDX2 FGF12 FGF13 FGF14 FHL1 FKRP FKTN FLNC FLRT1 FTL FUS FUZ FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAN GBA2 GBF1 GFPT1 GIPC1 GJB1 GJC2 GLE1 GMPPB GNS GOSR2 GPAA1 GPT2 GRID2 GRIN2D GYG1 HACE1 HCN1 HERC1 HK1 HPCA HSPB1 HSPB3 HTT IBA57 IFIH1 INTS1 ISCU KBTBD13 KCNA2 KCNB1 KCNC3 KCND3 KCNJ10 KLC2 KLHL41 KLHL9 KPNA3 KY LPIN1 LRP12 LRP4 LSM11 LYSET MARCHF6 MARS1 MATN3 MATR3 MECP2 MED25 MFN2 MICU1 MIEF2 MORC2 MPZ MSTO1 MTMR14 MTRFR MYF6 MYH7 MYO1H MYO9A MYOT MYPN NACC1 NDUFS8 NEB NECAP1 NF2 NKX2-1 NKX6-2 NOP56 NOTCH2NLC NPR3 NTRK1 NTRK2 NUBPL NUS1 ORAI1 PARS2 PDGFB PDK3 PEX6 PGAP1 PI4KA PIK3CA PKP1 PLEKHG5 PLP1 PMP2 PMP22 PNPLA2 POLG2 POMT1 POMT2 PPP3CA PRX PSAP PUS3 PYCR2 RAB11B RARS1 REEP1 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 RSPRY1 RTN2 RYR1 SACS SAMHD1 SBF2 SCN3A SCN8A SETX SGCB SGCD SH3TC2 SIGMAR1 SLC13A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC2A3 SLC30A10 SLC30A9 SLC34A3 SLC38A3 SLC5A7 SLC7A6OS SMARCB1 SMARCE1 SMO SNAP25 SORD SPART SPG11 SPG21 SPTLC1 SQSTM1 STRADA STUB1 SUFU SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TBC1D23 TCAP TERT TGM6 TIA1 TK2 TPK1 TPM2 TPM3 TPP1 TRAF7 TRAK1 TRAPPC11 TREX1 TRPV4 TTBK2 TTN UBA5 UBAP1 USP9X VAMP1 VCP VDR WARS1 WARS2 WASHC5 WDR48 WWOX YARS1 YWHAG

Diseases (231) :OMIM:619661 ORPHA:442835 ORPHA:139396 ORPHA:98907 OMIM:618960 ORPHA:171439 ORPHA:171433 ORPHA:51 ORPHA:324588 ORPHA:98914 ORPHA:2495 ORPHA:100924 ORPHA:353327 OMIM:616227 OMIM:205100 ORPHA:300605 ORPHA:399096 OMIM:619565 ORPHA:280763 ORPHA:401780 ORPHA:309271 ORPHA:401815 OMIM:159950 ORPHA:2590 ORPHA:513436 ORPHA:306674 OMIM:619681 ORPHA:320360 ORPHA:905 OMIM:609195 ORPHA:363454 ORPHA:169189 OMIM:619112 OMIM:616812 ORPHA:320370 OMIM:616907 ORPHA:267 OMIM:253600 OMIM:208230 OMIM:618748 ORPHA:505652 OMIM:615048 ORPHA:420492 ORPHA:397725 ORPHA:610 ORPHA:99845 ORPHA:444099 OMIM:616282 ORPHA:370980 ORPHA:399058 OMIM:618476 OMIM:213700 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:613818 ORPHA:137898 OMIM:609340 OMIM:618653 ORPHA:98909 OMIM:615025 ORPHA:79244 ORPHA:98895 ORPHA:352470 OMIM:616346 ORPHA:330050 ORPHA:239 ORPHA:45448 ORPHA:1667 OMIM:300148 ORPHA:423296 ORPHA:90322 ORPHA:90321 ORPHA:90324 ORPHA:401785 OMIM:615681 ORPHA:171629 OMIM:612319 OMIM:615575 OMIM:251900 ORPHA:98764 OMIM:300280 OMIM:606612 OMIM:607155 ORPHA:63273 ORPHA:320406 ORPHA:157846 ORPHA:1136 OMIM:232300 OMIM:617829 ORPHA:206443 ORPHA:643 ORPHA:320391 OMIM:606483 ORPHA:98897 OMIM:302800 ORPHA:320401 OMIM:611890 OMIM:252940 OMIM:614018 ORPHA:529665 ORPHA:477673 ORPHA:363432 OMIM:616199 ORPHA:464282 ORPHA:457359 ORPHA:99953 OMIM:605285 ORPHA:99657 OMIM:608634 OMIM:613376 ORPHA:399 ORPHA:468661 OMIM:618571 OMIM:255125 ORPHA:98768 ORPHA:98772 ORPHA:199343 ORPHA:399081 ORPHA:171612 OMIM:617114 OMIM:164310 OMIM:616304 OMIM:619345 OMIM:613608 OMIM:616280 ORPHA:93311 ORPHA:600 ORPHA:778 ORPHA:464738 OMIM:617087 OMIM:615673 ORPHA:401768 OMIM:619024 ORPHA:466768 OMIM:616688 ORPHA:3115 ORPHA:502423 OMIM:617675 ORPHA:254930 OMIM:615035 ORPHA:437572 OMIM:608358 OMIM:619482 ORPHA:98911 OMIM:617393 OMIM:618222 OMIM:610978 ORPHA:527497 ORPHA:276198 OMIM:619543 ORPHA:642 OMIM:618242 OMIM:612782 ORPHA:352675 ORPHA:95433 ORPHA:401820 OMIM:619621 ORPHA:158668 OMIM:611067 ORPHA:280234 ORPHA:280229 ORPHA:280219 ORPHA:280210 OMIM:618279 ORPHA:90658 OMIM:610717 ORPHA:98908 OMIM:619425 OMIM:609308 ORPHA:86812 ORPHA:206559 OMIM:614895 ORPHA:488627 ORPHA:481152 OMIM:617807 ORPHA:438114 ORPHA:101011 ORPHA:512260 ORPHA:457395 ORPHA:100993 ORPHA:98 ORPHA:99956 OMIM:604563 OMIM:602433 ORPHA:119 OMIM:601287 ORPHA:99949 OMIM:601596 OMIM:617239 OMIM:613710 ORPHA:309854 OMIM:617595 OMIM:241530 OMIM:158580 OMIM:619191 OMIM:616330 OMIM:618912 OMIM:275900 ORPHA:101001 ORPHA:603 OMIM:611087 ORPHA:412057 OMIM:616684 ORPHA:53351 OMIM:617695 OMIM:601954 OMIM:613908 ORPHA:276193 ORPHA:254875 OMIM:614458 OMIM:609285 ORPHA:284324 ORPHA:369847 OMIM:615356 ORPHA:369840 ORPHA:93314 ORPHA:98767 OMIM:603689 ORPHA:609 ORPHA:480880 ORPHA:251282 ORPHA:329478 OMIM:613954 ORPHA:435387 OMIM:277440 OMIM:617721 ORPHA:572798 ORPHA:100989 ORPHA:401800 OMIM:608323
 

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