TaoMedAI/RareMedData huggingface dataset:
Gene: GNAI3
Phenotype: Aplasia/Hypoplasia of the external ear (HP:0008772)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Ankylosis (HP:0031013)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Glossoptosis (HP:0000162)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Cleft palate (HP:0000175)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Microglossia (HP:0000171)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Mandibular condyle aplasia (HP:0007627)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Mandibular condyle aplasia (HP:0007627)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Mandibular condyle hypoplasia (HP:0007628)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Mandibular condyle hypoplasia (HP:0007628)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Apnea (HP:0002104)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Cleft at the superior portion of the pinna (HP:0008537)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Dental crowding (HP:0000678)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Dental crowding (HP:0000678)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Overfolding of the superior helices (HP:0004453)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Postauricular skin tag (HP:0004451)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Vein of Galen aneurysmal malformation (HP:0030713)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Periauricular skin pits (HP:0100277)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Full cheeks (HP:0000293)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Question mark ear (HP:0030022)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Cupped ear (HP:0000378)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Impaired mastication (HP:0005216)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Low-set ears (HP:0000369)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Micrognathia (HP:0000347)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Round face (HP:0000311)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Gene: GNAI3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAI3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Ptosis (HP:0000508)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: GNAI3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAI3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAL
Phenotype: Axial dystonia (HP:0002530)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAL
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAL
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAL
Phenotype: Adult onset (HP:0003581)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Focal dystonia (HP:0004373)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAL
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 25 (OMIM:615073)
Gene: GNAL
Phenotype: Torticollis (HP:0000473)
Associated disease: DYT25; Dystonia 25; Autosomal dominant focal dystonia, DYT25 type (ORPHA:329466)
Gene: GNAO1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)