Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Abnormality of the voice (HP:0001608)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Dysphonia (HP:0001618)help
Term ID: 1618
Name: Dysphonia
Synonym: Inability to produce voice sounds; Voice change
Definition: An impairment in the ability to produce voice sounds.
Comments:
Reference: HP:0001618
Genes and Diseases:
 
       Child Nodes:
........expandPseudobulbar paralysis (HP:0007024) help
........expandLaryngeal dystonia (HP:0012049) help

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomic aphasia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysarthria (HP:0001260) help
..expandDysgraphia (HP:0010526) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandLoss of speech (HP:0002371) help
..expandMutism (HP:0002300) help
..expandobsolete Dysphasia (HP:0002357) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) 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:0001618HP:0001618Dysphonia0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001618HP:0001618Dysphonia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001618HP:0001618Dysphonia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0001618HP:0001618Dysphonia0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0001618HP:0001618Dysphonia0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001618HP:0001618Dysphonia0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0001618HP:0001618Dysphonia0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0001618HP:0001618Dysphonia0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001618HP:0001618Dysphonia0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0001618HP:0001618Dysphonia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001618HP:0001618Dysphonia0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0001618HP:0001618Dysphonia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001618HP:0001618Dysphonia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0001618HP:0001618Dysphonia0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0001618HP:0001618Dysphonia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0001618HP:0001618Dysphonia0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0001618HP:0001618Dysphonia0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0001618HP:0001618Dysphonia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0001618HP:0001618Dysphonia0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040281 - Very frequent46
HP:0001618HP:0001618Dysphonia0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001618HP:0001618Dysphonia0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0001618HP:0001618Dysphonia0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0001618HP:0001618Dysphonia0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0001618HP:0001618Dysphonia0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0001618HP:0001618Dysphonia0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 5HP:0040283 - Occasional30
HP:0001618HP:0001618Dysphonia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0001618HP:0001618Dysphonia0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0001618HP:0001618Dysphonia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001618HP:0001618Dysphonia0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0001618HP:0001618Dysphonia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001618HP:0001618Dysphonia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001618HP:0001618Dysphonia0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0001618HP:0001618Dysphonia0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0001618HP:0001618Dysphonia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0001618HP:0001618Dysphonia0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0001618HP:0001618Dysphonia0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0001618HP:0001618Dysphonia0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001618HP:0001618Dysphonia0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 type13
HP:0001618HP:0001618Dysphonia0GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0001618HP:0001618Dysphonia0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0001618HP:0001618Dysphonia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0001618HP:0001618Dysphonia0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0001618HP:0001618Dysphonia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001618HP:0001618Dysphonia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001618HP:0001618Dysphonia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001618HP:0001618Dysphonia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001618HP:0001618Dysphonia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001618HP:0001618Dysphonia0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0001618HP:0001618Dysphonia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001618HP:0001618Dysphonia0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001618HP:0001618Dysphonia0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0001618HP:0001618Dysphonia0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0001618HP:0001618Dysphonia0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0001618HP:0001618Dysphonia0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0001618HP:0001618Dysphonia0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0001618HP:0001618Dysphonia0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0001618HP:0001618Dysphonia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0001618HP:0001618Dysphonia0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0001618HP:0001618Dysphonia0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0001618HP:0001618Dysphonia0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0001618HP:0001618Dysphonia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001618HP:0001618Dysphonia0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0001618HP:0001618Dysphonia0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0001618HP:0001618Dysphonia0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0001618HP:0001618Dysphonia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001618HP:0001618Dysphonia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001618HP:0001618Dysphonia0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001618HP:0001618Dysphonia0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0001618HP:0001618Dysphonia0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0001618HP:0001618Dysphonia0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0001618HP:0001618Dysphonia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001618HP:0001618Dysphonia0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0001618HP:0001618Dysphonia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0001618HP:0001618Dysphonia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0001618HP:0001618Dysphonia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0001618HP:0001618Dysphonia0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0001618HP:0001618Dysphonia0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0001618HP:0001618Dysphonia0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0001618HP:0001618Dysphonia0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001618HP:0001618Dysphonia0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0001618HP:0001618Dysphonia0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0001618HP:0001618Dysphonia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001618HP:0001618Dysphonia0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5125
HP:0001618HP:0001618Dysphonia0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001618HP:0001618Dysphonia0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0001618HP:0001618Dysphonia0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0001618HP:0001618Dysphonia0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0001618HP:0001618Dysphonia0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0001618HP:0001618Dysphonia0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0001618HP:0001618Dysphonia0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0001618HP:0001618Dysphonia0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0001618HP:0001618Dysphonia0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0001618HP:0001618Dysphonia0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001618HP:0001618Dysphonia0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0001618HP:0001618Dysphonia0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0001618HP:0001618Dysphonia0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0001618HP:0001618Dysphonia0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0001618HP:0001618Dysphonia0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0001618HP:0001618Dysphonia0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0001618HP:0001618Dysphonia0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0001618HP:0001618Dysphonia0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0001618HP:0001618Dysphonia0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001618HP:0001618Dysphonia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0001618HP:0001618Dysphonia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0001618HP:0001618Dysphonia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0001618HP:0001618Dysphonia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0001618HP:0001618Dysphonia0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0001618HP:0001618Dysphonia0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0001618HP:0001618Dysphonia0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 type42
HP:0001618HP:0001618Dysphonia0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0001618HP:0001618Dysphonia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0001618HP:0001618Dysphonia0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0001618HP:0001618Dysphonia0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001618HP:0001618Dysphonia0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0001618HP:0001618Dysphonia0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040281 - Very frequent66
HP:0001618HP:0001618Dysphonia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.HP:0003584 - Late onset113
HP:0001618HP:0001618Dysphonia0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0001618HP:0001618Dysphonia0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0001618HP:0001618Dysphonia0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0001618HP:0001618Dysphonia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0001618HP:0001618Dysphonia0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0001618HP:0001618Dysphonia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001618HP:0001618Dysphonia0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0001618HP:0007024Pseudobulbar paralysis1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001618HP:0007024Pseudobulbar paralysis1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0001618HP:0007024Pseudobulbar paralysis1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0001618HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001618HP:0012049Laryngeal dystonia1ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001618HP:0007024Pseudobulbar paralysis1B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040283 - Occasional25
HP:0001618HP:0012049Laryngeal dystonia1COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0001618HP:0012049Laryngeal dystonia1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040281 - Very frequent702
HP:0001618HP:0007024Pseudobulbar paralysis1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0001618HP:0007024Pseudobulbar paralysis1DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0001618HP:0007024Pseudobulbar paralysis1FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0001618HP:0012049Laryngeal dystonia1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0001618HP:0012049Laryngeal dystonia1GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0001618HP:0012049Laryngeal dystonia1GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0001618HP:0012049Laryngeal dystonia1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0001618HP:0012049Laryngeal dystonia1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0001618HP:0012049Laryngeal dystonia1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0001618HP:0007024Pseudobulbar paralysis1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0001618HP:0007024Pseudobulbar paralysis1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001618HP:0012049Laryngeal dystonia1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0001618HP:0012049Laryngeal dystonia1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0001618HP:0007024Pseudobulbar paralysis1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0001618HP:0007024Pseudobulbar paralysis1NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0001618HP:0007024Pseudobulbar paralysis1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0001618HP:0007024Pseudobulbar paralysis1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0001618HP:0007024Pseudobulbar paralysis1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0001618HP:0012049Laryngeal dystonia1PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0001618HP:0007024Pseudobulbar paralysis1PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0001618HP:0007024Pseudobulbar paralysis1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional
HP:0001618HP:0007024Pseudobulbar paralysis1SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001618HP:0007024Pseudobulbar paralysis1SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0001618HP:0007024Pseudobulbar paralysis1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0001618HP:0012049Laryngeal dystonia1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0001618HP:0007024Pseudobulbar paralysis1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0001618HP:0007024Pseudobulbar paralysis1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0001618HP:0012049Laryngeal dystonia1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0001618HP:0012049Laryngeal dystonia1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0001618HP:0012049Laryngeal dystonia1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040281 - Very frequent66
HP:0001618HP:0012049Laryngeal dystonia1VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0001618HP:0012049Laryngeal dystonia1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0001618HP:0007024Pseudobulbar paralysis1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189


Genes (120) :ACTB ADGRG1 AGRN ALDH18A1 ALS2 AR ASAH1 ATP5MC3 B4GALNT1 BAZ1B BCL7B BIN1 BUD23 CAPN15 CARS1 CHAT CIZ1 CLIP2 COL13A1 COL6A3 COQ2 CRYAB CYP27A1 DCTN1 DGUOK DLST DNAJB2 DNAJC30 DNMT3A EDA EIF4H ELN EPAS1 ERCC2 ERCC3 FH FIG4 FKBP6 FTL FUZ GFAP GNAL GNAS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HMBS HSPG2 HTRA1 INPP5K KCNK9 KCTD17 KIF1B KMT2B LIMK1 LMNB1 LRP12 MAX MDH2 METTL27 MFN2 MGME1 MLXIPL MPLKIP MYO9A NCF1 NEFH NEU1 NF1 NONO NOTCH3 PANK2 PI4KA POLG PRKRA PRPH RARS1 RET RFC2 RNF113A RRM2B RYR1 SBF2 SDHA SDHAF2 SDHB SDHC SDHD SEC31A SIL1 SLC18A3 SLC25A1 SLC25A11 SLC5A7 SNAP25 SOD1 SPEG SRPX2 STX16 STX1A SYT2 TARS1 TBL2 TGM6 THAP1 TMEM127 TMEM270 TPK1 TTC19 TTN TUBB4A TWNK VAMP1 VHL VPS11 VPS13A VPS37D ZFYVE26

Diseases (74) :OMIM:607371 ORPHA:98889 ORPHA:98914 OMIM:616586 OMIM:606353 ORPHA:481 ORPHA:333 OMIM:619681 ORPHA:101006 ORPHA:904 ORPHA:169186 OMIM:255200 OMIM:619318 ORPHA:33364 ORPHA:420492 OMIM:616411 ORPHA:464440 ORPHA:227510 ORPHA:399058 OMIM:213700 OMIM:105400 ORPHA:329314 OMIM:617070 ORPHA:29072 OMIM:614881 ORPHA:276621 OMIM:305100 ORPHA:208441 OMIM:606159 ORPHA:157846 ORPHA:1136 ORPHA:363722 ORPHA:329466 OMIM:615073 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:79276 ORPHA:800 ORPHA:199354 ORPHA:559 ORPHA:166108 OMIM:616398 ORPHA:589618 OMIM:617284 OMIM:169500 OMIM:164310 ORPHA:99947 OMIM:615084 ORPHA:352447 ORPHA:93399 ORPHA:466791 OMIM:125310 OMIM:234200 OMIM:258450 OMIM:612067 ORPHA:210571 ORPHA:438114 OMIM:613077 ORPHA:99956 OMIM:618651 OMIM:617143 OMIM:613908 ORPHA:276193 OMIM:602629 ORPHA:98806 OMIM:614458 OMIM:615157 OMIM:128101 ORPHA:98805 OMIM:609286 OMIM:619637 ORPHA:2388 ORPHA:100996
 

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