Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the voice (HP:0001608)help
..Starting node
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Speech articulation difficulties (HP:0009088)help
Term ID: 9088
Name: Speech articulation difficulties
Synonym:
Definition: Impairment in the physical production of speech sounds.
Comments:
Reference: HP:0009088
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cry (HP:0025429) help
..expandAbnormal speech prosody (HP:0031434) help
..expandAbnormally low-pitched voice (HP:0010300) help
..expandDysphonia (HP:0001618) help
..expandHigh pitched voice (HP:0001620) help
..expandHoarse voice (HP:0001609) help
..expandHyponasal speech (HP:0100271) help
..expandLoss of voice (HP:0001686) help
..expandNasal speech (HP:0001611) help
..expandVocal cord dysfunction (HP:0031801) help
..expandWeak voice (HP:0001621) 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:0009088HP:0009088Speech articulation difficulties0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0009088HP:0009088Speech articulation difficulties0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0009088HP:0009088Speech articulation difficulties0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0009088HP:0009088Speech articulation difficulties0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0009088HP:0009088Speech articulation difficulties0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0009088HP:0009088Speech articulation difficulties0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0009088HP:0009088Speech articulation difficulties0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040281 - Very frequent184
HP:0009088HP:0009088Speech articulation difficulties0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0009088HP:0009088Speech articulation difficulties0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent139
HP:0009088HP:0009088Speech articulation difficulties0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0009088HP:0009088Speech articulation difficulties0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0009088HP:0009088Speech articulation difficulties0GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040283 - Occasional12
HP:0009088HP:0009088Speech articulation difficulties0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0009088HP:0009088Speech articulation difficulties0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040282 - Frequent434
HP:0009088HP:0009088Speech articulation difficulties0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent434
HP:0009088HP:0009088Speech articulation difficulties0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0009088HP:0009088Speech articulation difficulties0IRF6 CL E G H36646121ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent99
HP:0009088HP:0009088Speech articulation difficulties0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0009088HP:0009088Speech articulation difficulties0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040283 - Occasional99
HP:0009088HP:0009088Speech articulation difficulties0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0009088HP:0009088Speech articulation difficulties0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0009088HP:0009088Speech articulation difficulties0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040283 - Occasional140
HP:0009088HP:0009088Speech articulation difficulties0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040282 - Frequent140
HP:0009088HP:0009088Speech articulation difficulties0MSX1 CL E G H44877391ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent12
HP:0009088HP:0009088Speech articulation difficulties0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0009088HP:0009088Speech articulation difficulties0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040283 - Occasional12
HP:0009088HP:0009088Speech articulation difficulties0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0009088HP:0009088Speech articulation difficulties0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0009088HP:0009088Speech articulation difficulties0NECTIN1 CL E G H58189706ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent4
HP:0009088HP:0009088Speech articulation difficulties0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0009088HP:0009088Speech articulation difficulties0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040283 - Occasional4
HP:0009088HP:0009088Speech articulation difficulties0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0009088HP:0009088Speech articulation difficulties0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0009088HP:0009088Speech articulation difficulties0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0009088HP:0009088Speech articulation difficulties0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0009088HP:0009088Speech articulation difficulties0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0009088HP:0009088Speech articulation difficulties0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0009088HP:0009088Speech articulation difficulties0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0009088HP:0009088Speech articulation difficulties0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0009088HP:0009088Speech articulation difficulties0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0009088HP:0009088Speech articulation difficulties0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent50
HP:0009088HP:0009088Speech articulation difficulties0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0009088HP:0009088Speech articulation difficulties0TP63 CL E G H862615979ORPHA:141291Cleft lip and alveolusHP:0040282 - Frequent140
HP:0009088HP:0009088Speech articulation difficulties0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0009088HP:0009088Speech articulation difficulties0TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040283 - Occasional140
HP:0009088HP:0009088Speech articulation difficulties0UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040283 - Occasional


Genes (31) :ALDH4A1 ARHGAP29 BMP4 CDH1 DLG1 DLX4 FOXP1 FRRS1L GABRG2 GALT GNAI3 GRHL3 GRIN2A HTT IRF6 MAGEL2 MAPT MSX1 NDN NECTIN1 NF1 OCA2 PDGFRA PLCB4 SH2B1 SLC2A3 SNRPN SRPX2 STAG2 TP63 UBB

Diseases (20) :ORPHA:79101 ORPHA:199306 ORPHA:391372 ORPHA:725 ORPHA:1945 ORPHA:79239 OMIM:602483 ORPHA:99772 ORPHA:98818 ORPHA:399 ORPHA:141291 ORPHA:199302 ORPHA:177901 ORPHA:177904 ORPHA:240103 ORPHA:240112 ORPHA:363700 OMIM:614669 ORPHA:261197 ORPHA:521258
 

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