TaoMedAI/RareMedData huggingface dataset:
Gene: GNAO1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Athetosis (HP:0002305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Athetosis (HP:0002305)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Gene: GNAO1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Gene: GNAO1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAO1
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: GNAQ
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Visual field defect (HP:0001123)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Zonular cataract (HP:0010920)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Epiphora (HP:0009926)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Sporadic (HP:0003745)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Stroke (HP:0001297)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Seizure (HP:0001250)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Seizure (HP:0001250)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Seizure (HP:0001250)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Ciliary body melanoma (HP:0012055)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Choroidal melanoma (HP:0012054)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Lens luxation (HP:0012019)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
Gene: GNAQ
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Dysphagia (HP:0002015)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
Gene: GNAQ
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Headache (HP:0002315)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Ocular pain (HP:0200026)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Ocular pain (HP:0200026)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Papule (HP:0200034)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Inferior lens subluxation (HP:0008494)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)