Phenotype: Speech articulation difficulties (HP:0009088)
Associated genes and diseases:
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: HTT
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: MSX1
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: MSX1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: MSX1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: NECTIN1
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: NECTIN1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: NECTIN1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: TP63
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: TP63
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: IRF6
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: IRF6
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: IRF6
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: STAG2
disease_id: ORPHA:521258
disease_name: Xq25 microduplication syndrome
Dup(X)(q25)
Xq25 microtriplication
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: MAPT
disease_id: ORPHA:240112
disease_name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
gene_symbol: MAPT
disease_id: ORPHA:240103
disease_name: Progressive supranuclear palsy-corticobasal syndrome
PSP-CBS
PSP-corticobasal syndrome
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: GRIN2A
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: GRIN2A
disease_id: ORPHA:1945
disease_name: Self-limited epilepsy with centrotemporal spikes
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: SRPX2
disease_id: ORPHA:1945
disease_name: Self-limited epilepsy with centrotemporal spikes
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
gene_symbol: GABRG2
disease_id: ORPHA:1945
disease_name: Self-limited epilepsy with centrotemporal spikes
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy
SeLECTS
gene_symbol: UBB
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: GRHL3
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: SH2B1
disease_id: ORPHA:261197
disease_name: Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: FOXP1
disease_id: ORPHA:391372
disease_name: FOXP1 Syndrome
FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
gene_symbol: RIC1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLG1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: CDH1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: PDGFRA
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLX4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: BMP4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: COBLL1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGEF38
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGAP29
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1