Human Phenotype Ontology 
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
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Abnormality of the voice (HP:0001608)help
Term ID: 1608
Name: Abnormality of the voice
Synonym: Abnormality of the voice; Voice abnormality
Definition:
Comments:
Reference: HP:0001608
Genes and Diseases:
 
       Child Nodes:
........expandHoarse voice (HP:0001609) help
................... HP:0001615 Hoarse cry
........expandNasal speech (HP:0001611) help
........expandDysphonia (HP:0001618) help
................... HP:0007024 Pseudobulbar paralysis
................... HP:0012049 Laryngeal dystonia
........expandHigh pitched voice (HP:0001620) help
........expandWeak voice (HP:0001621) help
........expandLoss of voice (HP:0001686) help
........expandSpeech articulation difficulties (HP:0009088) help
........expandAbnormally low-pitched voice (HP:0010300) help
........expandAbnormal cry (HP:0025429) help
................... HP:0001612 Weak cry
................... HP:0025430 High-pitched cry
................... HP:0025431 Staccato cry
................... HP:0200046 Cat cry
........expandAbnormal speech prosody (HP:0031434) help
................... HP:0031435 Monotonic speech
................... HP:0031436 Increased pitch variability of speech
........expandVocal cord dysfunction (HP:0031801) help
................... HP:0001605 Vocal cord paralysis
................... HP:0005934 Imperfect vocal cord adduction
........expandHyponasal speech (HP:0100271) help

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) 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:0001608HP:0001608Abnormality of the voice0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency120
HP:0001608HP:0001608Abnormality of the voice0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0001608HP:0001608Abnormality of the voice0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0001608HP:0001608Abnormality of the voice0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0001608HP:0001608Abnormality of the voice0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0001608HP:0001608Abnormality of the voice0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001608HP:0001608Abnormality of the voice0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 172
HP:0001608HP:0001608Abnormality of the voice0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001608HP:0001608Abnormality of the voice0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001608HP:0001608Abnormality of the voice0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset4
HP:0001608HP:0001608Abnormality of the voice0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0001608HP:0001608Abnormality of the voice0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0001608HP:0001608Abnormality of the voice0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0001608HP:0001608Abnormality of the voice0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0001608HP:0001608Abnormality of the voice0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0001608HP:0001608Abnormality of the voice0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0001608HP:0001608Abnormality of the voice0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 274
HP:0001608HP:0001608Abnormality of the voice0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001608HP:0001608Abnormality of the voice0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001608HP:0001608Abnormality of the voice0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0001608HP:0001608Abnormality of the voice0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040282 - Frequent65
HP:0001608HP:0001608Abnormality of the voice0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0001608HP:0001608Abnormality of the voice0AP4E1 CL E G H23431573OMIM:184450Stuttering, familial persistent, 1.48
HP:0001608HP:0001608Abnormality of the voice0AR CL E G H367644ORPHA:481Kennedy disease125
HP:0001608HP:0001608Abnormality of the voice0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0001608HP:0001608Abnormality of the voice0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palate6
HP:0001608HP:0001608Abnormality of the voice0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001608HP:0001608Abnormality of the voice0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0001608HP:0001608Abnormality of the voice0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001608HP:0001608Abnormality of the voice0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0001608HP:0001608Abnormality of the voice0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0001608HP:0001608Abnormality of the voice0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001608HP:0001608Abnormality of the voice0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001608HP:0001608Abnormality of the voice0ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0001608HP:0001608Abnormality of the voice0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001608HP:0001608Abnormality of the voice0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0001608HP:0001608Abnormality of the voice0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0001608HP:0001608Abnormality of the voice0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0001608HP:0001608Abnormality of the voice0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0001608HP:0001608Abnormality of the voice0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset11
HP:0001608HP:0001608Abnormality of the voice0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0001608HP:0001608Abnormality of the voice0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0001608HP:0001608Abnormality of the voice0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0001608HP:0001608Abnormality of the voice0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset1
HP:0001608HP:0001608Abnormality of the voice0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent43
HP:0001608HP:0001608Abnormality of the voice0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0001608HP:0001608Abnormality of the voice0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0001608HP:0001608Abnormality of the voice0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0001608HP:0001608Abnormality of the voice0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001608HP:0001608Abnormality of the voice0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0001608HP:0001608Abnormality of the voice0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palate38
HP:0001608HP:0001608Abnormality of the voice0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0001608HP:0001608Abnormality of the voice0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0001608HP:0001608Abnormality of the voice0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0001608HP:0001608Abnormality of the voice0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0001608HP:0001608Abnormality of the voice0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001608HP:0001608Abnormality of the voice0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001608HP:0001608Abnormality of the voice0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndrome1
HP:0001608HP:0001608Abnormality of the voice0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0001608HP:0001608Abnormality of the voice0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001608HP:0001608Abnormality of the voice0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001608HP:0001608Abnormality of the voice0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040282 - Frequent
HP:0001608HP:0001608Abnormality of the voice0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0001608HP:0001608Abnormality of the voice0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palate1003
HP:0001608HP:0001608Abnormality of the voice0CEP104 CL E G H973124866OMIM:6199885
HP:0001608HP:0001608Abnormality of the voice0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0001608HP:0001608Abnormality of the voice0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0001608HP:0001608Abnormality of the voice0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040282 - Frequent515
HP:0001608HP:0001608Abnormality of the voice0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0001608HP:0001608Abnormality of the voice0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0001608HP:0001608Abnormality of the voice0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0001608HP:0001608Abnormality of the voice0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0001608HP:0001608Abnormality of the voice0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0001608HP:0001608Abnormality of the voice0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0001608HP:0001608Abnormality of the voice0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0001608HP:0001608Abnormality of the voice0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0001608HP:0001608Abnormality of the voice0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0001608HP:0001608Abnormality of the voice0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0001608HP:0001608Abnormality of the voice0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 590
HP:0001608HP:0001608Abnormality of the voice0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0001608HP:0001608Abnormality of the voice0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0001608HP:0001608Abnormality of the voice0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0001608HP:0001608Abnormality of the voice0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 544
HP:0001608HP:0001608Abnormality of the voice0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0001608HP:0001608Abnormality of the voice0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0001608HP:0001608Abnormality of the voice0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related46
HP:0001608HP:0001608Abnormality of the voice0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0001608HP:0001608Abnormality of the voice0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0001608HP:0001608Abnormality of the voice0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001608HP:0001608Abnormality of the voice0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040282 - Frequent36
HP:0001608HP:0001608Abnormality of the voice0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0001608HP:0001608Abnormality of the voice0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0001608HP:0001608Abnormality of the voice0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0001608HP:0001608Abnormality of the voice0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001608HP:0001608Abnormality of the voice0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001608HP:0001608Abnormality of the voice0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0001608HP:0001608Abnormality of the voice0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0001608HP:0001608Abnormality of the voice0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0001608HP:0001608Abnormality of the voice0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0001608HP:0001608Abnormality of the voice0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0001608HP:0001608Abnormality of the voice0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 457
HP:0001608HP:0001608Abnormality of the voice0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0001608HP:0001608Abnormality of the voice0DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent
HP:0001608HP:0001608Abnormality of the voice0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palate
HP:0001608HP:0001608Abnormality of the voice0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001608HP:0001608Abnormality of the voice0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0001608HP:0001608Abnormality of the voice0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palate1
HP:0001608HP:0001608Abnormality of the voice0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0001608HP:0001608Abnormality of the voice0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 530
HP:0001608HP:0001608Abnormality of the voice0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0001608HP:0001608Abnormality of the voice0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0001608HP:0001608Abnormality of the voice0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0001608HP:0001608Abnormality of the voice0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001608HP:0001608Abnormality of the voice0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0001608HP:0001608Abnormality of the voice0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040282 - Frequent4
HP:0001608HP:0001608Abnormality of the voice0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0001608HP:0001608Abnormality of the voice0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001608HP:0001608Abnormality of the voice0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0001608HP:0001608Abnormality of the voice0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0001608HP:0001608Abnormality of the voice0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0001608HP:0001608Abnormality of the voice0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0001608HP:0001608Abnormality of the voice0EIF2AK2 CL E G H56109437ORPHA:256Early-onset generalized limb-onset dystoniaHP:0040282 - Frequent
HP:0001608HP:0001608Abnormality of the voice0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0001608HP:0001608Abnormality of the voice0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0001608HP:0001608Abnormality of the voice0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001608HP:0001608Abnormality of the voice0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001608HP:0001608Abnormality of the voice0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0001608HP:0001608Abnormality of the voice0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0001608HP:0001608Abnormality of the voice0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001608HP:0001608Abnormality of the voice0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001608HP:0001608Abnormality of the voice0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0001608HP:0001608Abnormality of the voice0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0001608HP:0001608Abnormality of the voice0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0001608HP:0001608Abnormality of the voice0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0001608HP:0001608Abnormality of the voice0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0001608HP:0001608Abnormality of the voice0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0001608HP:0001608Abnormality of the voice0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 28
HP:0001608HP:0001608Abnormality of the voice0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasia1361
HP:0001608HP:0001608Abnormality of the voice0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia1361
HP:0001608HP:0001608Abnormality of the voice0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0001608HP:0001608Abnormality of the voice0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0001608HP:0001608Abnormality of the voice0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040282 - Frequent2
HP:0001608HP:0001608Abnormality of the voice0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040282 - Frequent3
HP:0001608HP:0001608Abnormality of the voice0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0001608HP:0001608Abnormality of the voice0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040282 - Frequent17
HP:0001608HP:0001608Abnormality of the voice0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0001608HP:0001608Abnormality of the voice0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040282 - Frequent172
HP:0001608HP:0001608Abnormality of the voice0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0001608HP:0001608Abnormality of the voice0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0001608HP:0001608Abnormality of the voice0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0001608HP:0001608Abnormality of the voice0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0001608HP:0001608Abnormality of the voice0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0001608HP:0001608Abnormality of the voice0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001608HP:0001608Abnormality of the voice0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent157
HP:0001608HP:0001608Abnormality of the voice0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama type184
HP:0001608HP:0001608Abnormality of the voice0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent184
HP:0001608HP:0001608Abnormality of the voice0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0001608HP:0001608Abnormality of the voice0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0001608HP:0001608Abnormality of the voice0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040282 - Frequent4
HP:0001608HP:0001608Abnormality of the voice0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0001608HP:0001608Abnormality of the voice0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0001608HP:0001608Abnormality of the voice0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0001608HP:0001608Abnormality of the voice0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleep4
HP:0001608HP:0001608Abnormality of the voice0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0001608HP:0001608Abnormality of the voice0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0001608HP:0001608Abnormality of the voice0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0001608HP:0001608Abnormality of the voice0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0001608HP:0001608Abnormality of the voice0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0001608HP:0001608Abnormality of the voice0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0001608HP:0001608Abnormality of the voice0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001608HP:0001608Abnormality of the voice0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0001608HP:0001608Abnormality of the voice0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset
HP:0001608HP:0001608Abnormality of the voice0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001608HP:0001608Abnormality of the voice0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001608HP:0001608Abnormality of the voice0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0001608HP:0001608Abnormality of the voice0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001608HP:0001608Abnormality of the voice0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0001608HP:0001608Abnormality of the voice0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001608HP:0001608Abnormality of the voice0GHR CL E G H26904263OMIM:262500Laron syndrome98
HP:0001608HP:0001608Abnormality of the voice0GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0001608HP:0001608Abnormality of the voice0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0001608HP:0001608Abnormality of the voice0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0001608HP:0001608Abnormality of the voice0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset1
HP:0001608HP:0001608Abnormality of the voice0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0001608HP:0001608Abnormality of the voice0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent34
HP:0001608HP:0001608Abnormality of the voice0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0001608HP:0001608Abnormality of the voice0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 type13
HP:0001608HP:0001608Abnormality of the voice0GNAL CL E G H27744388OMIM:615073Dystonia 2513
HP:0001608HP:0001608Abnormality of the voice0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0001608HP:0001608Abnormality of the voice0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0001608HP:0001608Abnormality of the voice0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0001608HP:0001608Abnormality of the voice0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0001608HP:0001608Abnormality of the voice0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001608HP:0001608Abnormality of the voice0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0001608HP:0001608Abnormality of the voice0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0001608HP:0001608Abnormality of the voice0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0001608HP:0001608Abnormality of the voice0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0001608HP:0001608Abnormality of the voice0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001608HP:0001608Abnormality of the voice0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0001608HP:0001608Abnormality of the voice0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001608HP:0001608Abnormality of the voice0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0001608HP:0001608Abnormality of the voice0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001608HP:0001608Abnormality of the voice0GRHL3 CL E G H5782225839ORPHA:99772Cleft velum12
HP:0001608HP:0001608Abnormality of the voice0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleep434
HP:0001608HP:0001608Abnormality of the voice0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0001608HP:0001608Abnormality of the voice0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0001608HP:0001608Abnormality of the voice0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome434
HP:0001608HP:0001608Abnormality of the voice0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001608HP:0001608Abnormality of the voice0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001608HP:0001608Abnormality of the voice0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001608Abnormality of the voice0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001608Abnormality of the voice0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001608Abnormality of the voice0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0001608HP:0001608Abnormality of the voice0HACD1 CL E G H92009639OMIM:6199672
HP:0001608HP:0001608Abnormality of the voice0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0001608HP:0001608Abnormality of the voice0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0001608HP:0001608Abnormality of the voice0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001608HP:0001608Abnormality of the voice0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040282 - Frequent21
HP:0001608HP:0001608Abnormality of the voice0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0001608HP:0001608Abnormality of the voice0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0001608HP:0001608Abnormality of the voice0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0001608HP:0001608Abnormality of the voice0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040282 - Frequent8
HP:0001608HP:0001608Abnormality of the voice0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0001608HP:0001608Abnormality of the voice0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0001608HP:0001608Abnormality of the voice0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0001608HP:0001608Abnormality of the voice0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001608HP:0001608Abnormality of the voice0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0001608HP:0001608Abnormality of the voice0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0001608HP:0001608Abnormality of the voice0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0001608HP:0001608Abnormality of the voice0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0001608HP:0001608Abnormality of the voice0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0001608HP:0001608Abnormality of the voice0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0001608HP:0001608Abnormality of the voice0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0001608HP:0001608Abnormality of the voice0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040282 - Frequent9
HP:0001608HP:0001608Abnormality of the voice0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0001608HP:0001608Abnormality of the voice0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndrome7
HP:0001608HP:0001608Abnormality of the voice0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001608HP:0001608Abnormality of the voice0IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndrome119
HP:0001608HP:0001608Abnormality of the voice0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0001608HP:0001608Abnormality of the voice0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolus99
HP:0001608HP:0001608Abnormality of the voice0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palate99
HP:0001608HP:0001608Abnormality of the voice0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lip99
HP:0001608HP:0001608Abnormality of the voice0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0001608HP:0001608Abnormality of the voice0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0001608HP:0001608Abnormality of the voice0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001608HP:0001608Abnormality of the voice0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0001608HP:0001608Abnormality of the voice0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0001608HP:0001608Abnormality of the voice0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0001608HP:0001608Abnormality of the voice0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0001608HP:0001608Abnormality of the voice0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001608HP:0001608Abnormality of the voice0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0001608HP:0001608Abnormality of the voice0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0001608HP:0001608Abnormality of the voice0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0001608HP:0001608Abnormality of the voice0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0001608HP:0001608Abnormality of the voice0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0001608HP:0001608Abnormality of the voice0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001608HP:0001608Abnormality of the voice0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0001608HP:0001608Abnormality of the voice0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0001608HP:0001608Abnormality of the voice0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0001608HP:0001608Abnormality of the voice0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0001608HP:0001608Abnormality of the voice0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0001608HP:0001608Abnormality of the voice0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0001608HP:0001608Abnormality of the voice0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0001608HP:0001608Abnormality of the voice0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0001608HP:0001608Abnormality of the voice0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0001608HP:0001608Abnormality of the voice0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0001608HP:0001608Abnormality of the voice0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:0001608HP:0001608Abnormality of the voice0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0001608HP:0001608Abnormality of the voice0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0001608HP:0001608Abnormality of the voice0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0001608HP:0001608Abnormality of the voice0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0001608HP:0001608Abnormality of the voice0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent136
HP:0001608HP:0001608Abnormality of the voice0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0001608HP:0001608Abnormality of the voice0LEMD3 CL E G H2359228887OMIM:166700Buschke-Ollendorff syndrome68
HP:0001608HP:0001608Abnormality of the voice0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0001608HP:0001608Abnormality of the voice0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001608HP:0001608Abnormality of the voice0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0001608HP:0001608Abnormality of the voice0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0001608HP:0001608Abnormality of the voice0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0001608HP:0001608Abnormality of the voice0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0001608HP:0001608Abnormality of the voice0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0001608HP:0001608Abnormality of the voice0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0001608HP:0001608Abnormality of the voice0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0001608HP:0001608Abnormality of the voice0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasia12
HP:0001608HP:0001608Abnormality of the voice0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0001608HP:0001608Abnormality of the voice0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0001608HP:0001608Abnormality of the voice0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0001608HP:0001608Abnormality of the voice0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001608HP:0001608Abnormality of the voice0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0001608HP:0001608Abnormality of the voice0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0001608HP:0001608Abnormality of the voice0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0001608HP:0001608Abnormality of the voice0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0001608HP:0001608Abnormality of the voice0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001608HP:0001608Abnormality of the voice0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset140
HP:0001608HP:0001608Abnormality of the voice0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0001608HP:0001608Abnormality of the voice0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0001608HP:0001608Abnormality of the voice0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0001608HP:0001608Abnormality of the voice0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0001608HP:0001608Abnormality of the voice0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0001608HP:0001608Abnormality of the voice0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0001608HP:0001608Abnormality of the voice0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0001608HP:0001608Abnormality of the voice0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0001608HP:0001608Abnormality of the voice0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0001608HP:0001608Abnormality of the voice0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent228
HP:0001608HP:0001608Abnormality of the voice0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0001608HP:0001608Abnormality of the voice0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0001608HP:0001608Abnormality of the voice0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001608HP:0001608Abnormality of the voice0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0001608HP:0001608Abnormality of the voice0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001608Abnormality of the voice0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0001608HP:0001608Abnormality of the voice0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0001608HP:0001608Abnormality of the voice0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0001608HP:0001608Abnormality of the voice0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0001608HP:0001608Abnormality of the voice0MGP CL E G H42567060OMIM:245150Keutel syndrome33
HP:0001608HP:0001608Abnormality of the voice0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I57
HP:0001608HP:0001608Abnormality of the voice0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001608HP:0001608Abnormality of the voice0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001608HP:0001608Abnormality of the voice0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001608Abnormality of the voice0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001608HP:0001608Abnormality of the voice0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0001608HP:0001608Abnormality of the voice0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0001608HP:0001608Abnormality of the voice0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001608HP:0001608Abnormality of the voice0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolus12
HP:0001608HP:0001608Abnormality of the voice0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palate12
HP:0001608HP:0001608Abnormality of the voice0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lip12
HP:0001608HP:0001608Abnormality of the voice0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001608HP:0001608Abnormality of the voice0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0001608HP:0001608Abnormality of the voice0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0001608HP:0001608Abnormality of the voice0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0001608HP:0001608Abnormality of the voice0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001608HP:0001608Abnormality of the voice0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndrome166
HP:0001608HP:0001608Abnormality of the voice0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0001608HP:0001608Abnormality of the voice0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0001608HP:0001608Abnormality of the voice0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0001608HP:0001608Abnormality of the voice0MYMX CL E G H10192972652391OMIM:619941
HP:0001608HP:0001608Abnormality of the voice0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0001608HP:0001608Abnormality of the voice0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0001608HP:0001608Abnormality of the voice0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body75
HP:0001608HP:0001608Abnormality of the voice0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0001608HP:0001608Abnormality of the voice0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndrome48
HP:0001608HP:0001608Abnormality of the voice0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0001608HP:0001608Abnormality of the voice0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001608HP:0001608Abnormality of the voice0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001608HP:0001608Abnormality of the voice0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001608HP:0001608Abnormality of the voice0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040282 - Frequent
HP:0001608HP:0001608Abnormality of the voice0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0001608HP:0001608Abnormality of the voice0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolus4
HP:0001608HP:0001608Abnormality of the voice0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palate4
HP:0001608HP:0001608Abnormality of the voice0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lip4
HP:0001608HP:0001608Abnormality of the voice0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0001608HP:0001608Abnormality of the voice0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0001608HP:0001608Abnormality of the voice0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0001608HP:0001608Abnormality of the voice0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0001608HP:0001608Abnormality of the voice0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0001608HP:0001608Abnormality of the voice0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0001608HP:0001608Abnormality of the voice0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0001608HP:0001608Abnormality of the voice0NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0001608HP:0001608Abnormality of the voice0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0001608HP:0001608Abnormality of the voice0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001608HP:0001608Abnormality of the voice0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001608HP:0001608Abnormality of the voice0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0001608HP:0001608Abnormality of the voice0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0001608HP:0001608Abnormality of the voice0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0001608HP:0001608Abnormality of the voice0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001608HP:0001608Abnormality of the voice0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset27
HP:0001608HP:0001608Abnormality of the voice0NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0001608HP:0001608Abnormality of the voice0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0001608HP:0001608Abnormality of the voice0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0001608HP:0001608Abnormality of the voice0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0001608HP:0001608Abnormality of the voice0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0001608HP:0001608Abnormality of the voice0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0001608HP:0001608Abnormality of the voice0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 221
HP:0001608HP:0001608Abnormality of the voice0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0001608HP:0001608Abnormality of the voice0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 12
HP:0001608HP:0001608Abnormality of the voice0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0001608HP:0001608Abnormality of the voice0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0001608HP:0001608Abnormality of the voice0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0001608HP:0001608Abnormality of the voice0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0001608HP:0001608Abnormality of the voice0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0001608HP:0001608Abnormality of the voice0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palate337
HP:0001608HP:0001608Abnormality of the voice0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0001608HP:0001608Abnormality of the voice0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0001608HP:0001608Abnormality of the voice0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0001608HP:0001608Abnormality of the voice0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0001608HP:0001608Abnormality of the voice0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0001608HP:0001608Abnormality of the voice0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0001608HP:0001608Abnormality of the voice0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsiesHP:0040283 - Occasional79
HP:0001608HP:0001608Abnormality of the voice0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0001608HP:0001608Abnormality of the voice0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizures92
HP:0001608HP:0001608Abnormality of the voice0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0001608HP:0001608Abnormality of the voice0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonism6
HP:0001608HP:0001608Abnormality of the voice0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0001608HP:0001608Abnormality of the voice0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome731
HP:0001608HP:0001608Abnormality of the voice0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0001608HP:0001608Abnormality of the voice0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0001608HP:0001608Abnormality of the voice0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0001608HP:0001608Abnormality of the voice0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent180
HP:0001608HP:0001608Abnormality of the voice0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent213
HP:0001608HP:0001608Abnormality of the voice0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent221
HP:0001608HP:0001608Abnormality of the voice0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0001608HP:0001608Abnormality of the voice0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndrome
HP:0001608HP:0001608Abnormality of the voice0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001608HP:0001608Abnormality of the voice0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0001608HP:0001608Abnormality of the voice0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001608HP:0001608Abnormality of the voice0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0001608HP:0001608Abnormality of the voice0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0001608HP:0001608Abnormality of the voice0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndrome7
HP:0001608HP:0001608Abnormality of the voice0PREPL CL E G H958130228ORPHA:163690Hypotonia-cystinuria syndrome7
HP:0001608HP:0001608Abnormality of the voice0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0001608HP:0001608Abnormality of the voice0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0001608HP:0001608Abnormality of the voice0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040282 - Frequent9
HP:0001608HP:0001608Abnormality of the voice0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0001608HP:0001608Abnormality of the voice0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040282 - Frequent34
HP:0001608HP:0001608Abnormality of the voice0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0001608HP:0001608Abnormality of the voice0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0001608HP:0001608Abnormality of the voice0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0001608HP:0001608Abnormality of the voice0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0001608HP:0001608Abnormality of the voice0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001608HP:0001608Abnormality of the voice0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001608HP:0001608Abnormality of the voice0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0001608HP:0001608Abnormality of the voice0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0001608HP:0001608Abnormality of the voice0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0001608HP:0001608Abnormality of the voice0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001608HP:0001608Abnormality of the voice0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0001608HP:0001608Abnormality of the voice0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0001608HP:0001608Abnormality of the voice0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0001608HP:0001608Abnormality of the voice0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001608HP:0001608Abnormality of the voice0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0001608HP:0001608Abnormality of the voice0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0001608HP:0001608Abnormality of the voice0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0001608HP:0001608Abnormality of the voice0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0001608HP:0001608Abnormality of the voice0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001608HP:0001608Abnormality of the voice0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0001608HP:0001608Abnormality of the voice0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0001608HP:0001608Abnormality of the voice0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0001608HP:0001608Abnormality of the voice0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0001608HP:0001608Abnormality of the voice0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0001608HP:0001608Abnormality of the voice0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001608HP:0001608Abnormality of the voice0RNF6 CL E G H604910069ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent3
HP:0001608HP:0001608Abnormality of the voice0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0001608HP:0001608Abnormality of the voice0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0001608HP:0001608Abnormality of the voice0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5125
HP:0001608HP:0001608Abnormality of the voice0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001608HP:0001608Abnormality of the voice0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0001608HP:0001608Abnormality of the voice0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathy1200
HP:0001608HP:0001608Abnormality of the voice0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0001608HP:0001608Abnormality of the voice0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0001608HP:0001608Abnormality of the voice0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0001608HP:0001608Abnormality of the voice0SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0001608HP:0001608Abnormality of the voice0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0001608HP:0001608Abnormality of the voice0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0001608HP:0001608Abnormality of the voice0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0001608HP:0001608Abnormality of the voice0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0001608HP:0001608Abnormality of the voice0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0001608HP:0001608Abnormality of the voice0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0001608HP:0001608Abnormality of the voice0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0001608HP:0001608Abnormality of the voice0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0001608HP:0001608Abnormality of the voice0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0001608HP:0001608Abnormality of the voice0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0001608HP:0001608Abnormality of the voice0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0001608HP:0001608Abnormality of the voice0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0001608HP:0001608Abnormality of the voice0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0001608HP:0001608Abnormality of the voice0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 25
HP:0001608HP:0001608Abnormality of the voice0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001608HP:0001608Abnormality of the voice0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0001608HP:0001608Abnormality of the voice0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0001608HP:0001608Abnormality of the voice0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0001608HP:0001608Abnormality of the voice0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0001608HP:0001608Abnormality of the voice0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040282 - Frequent14
HP:0001608HP:0001608Abnormality of the voice0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040281 - Very frequent6
HP:0001608HP:0001608Abnormality of the voice0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 164
HP:0001608HP:0001608Abnormality of the voice0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X52
HP:0001608HP:0001608Abnormality of the voice0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0001608HP:0001608Abnormality of the voice0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0001608HP:0001608Abnormality of the voice0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0001608HP:0001608Abnormality of the voice0SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040283 - Occasional177
HP:0001608HP:0001608Abnormality of the voice0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0001608HP:0001608Abnormality of the voice0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001608HP:0001608Abnormality of the voice0SHQ1 CL E G H5516425543ORPHA:256Early-onset generalized limb-onset dystoniaHP:0040282 - Frequent
HP:0001608HP:0001608Abnormality of the voice0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndrome67
HP:0001608HP:0001608Abnormality of the voice0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0001608HP:0001608Abnormality of the voice0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0001608HP:0001608Abnormality of the voice0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0001608HP:0001608Abnormality of the voice0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0001608HP:0001608Abnormality of the voice0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome55
HP:0001608HP:0001608Abnormality of the voice0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0001608HP:0001608Abnormality of the voice0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0001608HP:0001608Abnormality of the voice0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0001608HP:0001608Abnormality of the voice0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0001608HP:0001608Abnormality of the voice0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndrome55
HP:0001608HP:0001608Abnormality of the voice0SLC3A1 CL E G H651911025ORPHA:163690Hypotonia-cystinuria syndrome55
HP:0001608HP:0001608Abnormality of the voice0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0001608HP:0001608Abnormality of the voice0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0001608HP:0001608Abnormality of the voice0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA9
HP:0001608HP:0001608Abnormality of the voice0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0001608HP:0001608Abnormality of the voice0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0001608HP:0001608Abnormality of the voice0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001608HP:0001608Abnormality of the voice0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0001608HP:0001608Abnormality of the voice0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0001608HP:0001608Abnormality of the voice0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0001608HP:0001608Abnormality of the voice0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0001608HP:0001608Abnormality of the voice0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0001608HP:0001608Abnormality of the voice0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0001608HP:0001608Abnormality of the voice0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0001608HP:0001608Abnormality of the voice0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset35
HP:0001608HP:0001608Abnormality of the voice0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001608HP:0001608Abnormality of the voice0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001608HP:0001608Abnormality of the voice0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0001608HP:0001608Abnormality of the voice0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0001608HP:0001608Abnormality of the voice0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0001608HP:0001608Abnormality of the voice0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0001608HP:0001608Abnormality of the voice0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0001608HP:0001608Abnormality of the voice0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040282 - Frequent61
HP:0001608HP:0001608Abnormality of the voice0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0001608HP:0001608Abnormality of the voice0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0001608HP:0001608Abnormality of the voice0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7171
HP:0001608HP:0001608Abnormality of the voice0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040282 - Frequent5
HP:0001608HP:0001608Abnormality of the voice0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0001608HP:0001608Abnormality of the voice0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001608HP:0001608Abnormality of the voice0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0001608HP:0001608Abnormality of the voice0SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias.86
HP:0001608HP:0001608Abnormality of the voice0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0001608HP:0001608Abnormality of the voice0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0001608HP:0001608Abnormality of the voice0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome50
HP:0001608HP:0001608Abnormality of the voice0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndrome1
HP:0001608HP:0001608Abnormality of the voice0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0001608HP:0001608Abnormality of the voice0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0001608HP:0001608Abnormality of the voice0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0001608HP:0001608Abnormality of the voice0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0001608HP:0001608Abnormality of the voice0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0001608HP:0001608Abnormality of the voice0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonism9
HP:0001608HP:0001608Abnormality of the voice0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset9
HP:0001608HP:0001608Abnormality of the voice0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0001608HP:0001608Abnormality of the voice0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0001608HP:0001608Abnormality of the voice0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0001608HP:0001608Abnormality of the voice0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040282 - Frequent34
HP:0001608HP:0001608Abnormality of the voice0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0001608HP:0001608Abnormality of the voice0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001608HP:0001608Abnormality of the voice0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001608HP:0001608Abnormality of the voice0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset7
HP:0001608HP:0001608Abnormality of the voice0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0001608HP:0001608Abnormality of the voice0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0001608HP:0001608Abnormality of the voice0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0001608HP:0001608Abnormality of the voice0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0001608HP:0001608Abnormality of the voice0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0001608HP:0001608Abnormality of the voice0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0001608HP:0001608Abnormality of the voice0TGFBR2 CL E G H704811773ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent253
HP:0001608HP:0001608Abnormality of the voice0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0001608HP:0001608Abnormality of the voice0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0001608HP:0001608Abnormality of the voice0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0001608HP:0001608Abnormality of the voice0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 type42
HP:0001608HP:0001608Abnormality of the voice0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 69
HP:0001608HP:0001608Abnormality of the voice0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0001608HP:0001608Abnormality of the voice0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0001608HP:0001608Abnormality of the voice0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0001608HP:0001608Abnormality of the voice0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0001608HP:0001608Abnormality of the voice0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0001608HP:0001608Abnormality of the voice0TOR1A CL E G H18613098ORPHA:256Early-onset generalized limb-onset dystoniaHP:0040282 - Frequent47
HP:0001608HP:0001608Abnormality of the voice0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolus140
HP:0001608HP:0001608Abnormality of the voice0TP63 CL E G H862615979ORPHA:199306Cleft lip/palate140
HP:0001608HP:0001608Abnormality of the voice0TP63 CL E G H862615979ORPHA:199302Isolated cleft lip140
HP:0001608HP:0001608Abnormality of the voice0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0001608HP:0001608Abnormality of the voice0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0001608HP:0001608Abnormality of the voice0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0001608HP:0001608Abnormality of the voice0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0001608HP:0001608Abnormality of the voice0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0001608HP:0001608Abnormality of the voice0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0001608HP:0001608Abnormality of the voice0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0001608HP:0001608Abnormality of the voice0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0001608HP:0001608Abnormality of the voice0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0001608HP:0001608Abnormality of the voice0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency5
HP:0001608HP:0001608Abnormality of the voice0TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome2
HP:0001608HP:0001608Abnormality of the voice0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R3
HP:0001608HP:0001608Abnormality of the voice0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0001608HP:0001608Abnormality of the voice0TRIM37 CL E G H45917523ORPHA:2576Mulibrey nanism78
HP:0001608HP:0001608Abnormality of the voice0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0001608HP:0001608Abnormality of the voice0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0001608HP:0001608Abnormality of the voice0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset
HP:0001608HP:0001608Abnormality of the voice0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0001608HP:0001608Abnormality of the voice0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I171
HP:0001608HP:0001608Abnormality of the voice0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0001608HP:0001608Abnormality of the voice0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0001608HP:0001608Abnormality of the voice0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0001608HP:0001608Abnormality of the voice0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0001608HP:0001608Abnormality of the voice0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutations97
HP:0001608HP:0001608Abnormality of the voice0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0001608HP:0001608Abnormality of the voice0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040282 - Frequent1
HP:0001608HP:0001608Abnormality of the voice0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 288
HP:0001608HP:0001608Abnormality of the voice0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001608HP:0001608Abnormality of the voice0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0001608HP:0001608Abnormality of the voice0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0001608HP:0001608Abnormality of the voice0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0001608HP:0001608Abnormality of the voice0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0001608HP:0001608Abnormality of the voice0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0001608HP:0001608Abnormality of the voice0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0001608HP:0001608Abnormality of the voice0UBB CL E G H731412463ORPHA:99772Cleft velum
HP:0001608HP:0001608Abnormality of the voice0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0001608HP:0001608Abnormality of the voice0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0001608HP:0001608Abnormality of the voice0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent33
HP:0001608HP:0001608Abnormality of the voice0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0001608HP:0001608Abnormality of the voice0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0001608HP:0001608Abnormality of the voice0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001608HP:0001608Abnormality of the voice0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0001608HP:0001608Abnormality of the voice0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0001608HP:0001608Abnormality of the voice0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0001608HP:0001608Abnormality of the voice0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0001608HP:0001608Abnormality of the voice0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0001608HP:0001608Abnormality of the voice0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0001608HP:0001608Abnormality of the voice0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001608Abnormality of the voice0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040282 - Frequent10
HP:0001608HP:0001608Abnormality of the voice0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0001608HP:0001608Abnormality of the voice0WRN CL E G H748612791OMIM:277700Werner syndrome310
HP:0001608HP:0001608Abnormality of the voice0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0001608HP:0001608Abnormality of the voice0WWOX CL E G H5174112799ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040282 - Frequent149
HP:0001608HP:0001608Abnormality of the voice0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0001608HP:0001608Abnormality of the voice0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0001608HP:0001608Abnormality of the voice0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent10
HP:0001608HP:0001608Abnormality of the voice0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0001608HP:0001608Abnormality of the voice0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0001608HP:0001608Abnormality of the voice0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001608HP:0025429Abnormal cry1ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency120
HP:0001608HP:0001609Hoarse voice1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0001608HP:0001609Hoarse voice1ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040282 - Frequent34
HP:0001608HP:0001609Hoarse voice1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0001608HP:0025429Abnormal cry1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0001608HP:0001618Dysphonia1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001608HP:0001620High pitched voice1ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001608HP:0001609Hoarse voice1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001608HP:0001618Dysphonia1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001608HP:0001621Weak voice1ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0001608HP:0001609Hoarse voice1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0001608HP:0001609Hoarse voice1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0001608HP:0001609Hoarse voice1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001608HP:0001611Nasal speech1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0001608HP:0001618Dysphonia1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0001608HP:0025429Abnormal cry1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0001608HP:0001609Hoarse voice1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0001608HP:0001618Dysphonia1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0001608HP:0009088Speech articulation difficulties1ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0001608HP:0001618Dysphonia1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001608HP:0001611Nasal speech1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001608HP:0001621Weak voice1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0001608HP:0001618Dysphonia1AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0001608HP:0001620High pitched voice1AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0001608HP:0001611Nasal speech1ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040283 - Occasional6
HP:0001608HP:0009088Speech articulation difficulties1ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0001608HP:0001620High pitched voice1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001608HP:0001609Hoarse voice1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001608HP:0001611Nasal speech1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001686Loss of voice1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0001608HP:0001609Hoarse voice1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040281 - Very frequent78
HP:0001608HP:0025429Abnormal cry1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001608HP:0001618Dysphonia1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0001608HP:0001609Hoarse voice1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0001608HP:0025429Abnormal cry1ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0001608HP:0001611Nasal speech1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001608HP:0025429Abnormal cry1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001608HP:0025429Abnormal cry1ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0001608HP:0001618Dysphonia1ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001608HP:0031434Abnormal speech prosody1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0001608HP:0001621Weak voice1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0001608HP:0001611Nasal speech1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001608HP:0001611Nasal speech1ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0001608HP:0025429Abnormal cry1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0001608HP:0001621Weak voice1ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0001608HP:0031801Vocal cord dysfunction1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0001608HP:0031801Vocal cord dysfunction1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0001608HP:0031801Vocal cord dysfunction1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0001608HP:0001621Weak voice1ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0001608HP:0001618Dysphonia1B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0001608HP:0001611Nasal speech1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0001608HP:0001609Hoarse voice1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001618Dysphonia1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001608HP:0001609Hoarse voice1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001618Dysphonia1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001608HP:0001618Dysphonia1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001608HP:0001618Dysphonia1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0001608HP:0001620High pitched voice1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0001608HP:0001611Nasal speech1BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040283 - Occasional38
HP:0001608HP:0009088Speech articulation difficulties1BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0001608HP:0010300Abnormally low-pitched voice1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0001608HP:0001620High pitched voice1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001608HP:0001609Hoarse voice1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001608HP:0001618Dysphonia1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001608HP:0001609Hoarse voice1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0001608HP:0001611Nasal speech1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001608HP:0031801Vocal cord dysfunction1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001608HP:0001611Nasal speech1CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001608HP:0001611Nasal speech1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0001608HP:0001618Dysphonia1CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001608HP:0001618Dysphonia1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001608HP:0001609Hoarse voice1CDC73 CL E G H7957716783ORPHA:143Parat