TaoMedAI/RareMedData huggingface dataset:
Gene: AP1S2
Phenotype: Myopathy (HP:0003198)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Long nose (HP:0003189)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Long face (HP:0000276)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Long face (HP:0000276)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Long face (HP:0000276)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: High palate (HP:0000218)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: High forehead (HP:0000348)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Short chin (HP:0000331)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Triangular face (HP:0000325)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Macrotia (HP:0000400)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Strabismus (HP:0000486)
Associated disease: Pettigrew Syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (ORPHA:1568)
Gene: AP1S2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Prominent nose (HP:0000448)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Protruding ear (HP:0000411)
Associated disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
Gene: AP1S2
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: AP1S2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Fried syndrome (ORPHA:85335)
Gene: AP1S2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PETTIGREW SYNDROME (OMIM:304340)
Gene: SGCE
Phenotype: Panic attack (HP:0025269)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Panic attack (HP:0025269)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Personality disorder (HP:0012075)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Dystonia (HP:0001332)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Tremor (HP:0001337)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Myoclonus (HP:0001336)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Spinal myoclonus (HP:0010531)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Agoraphobia (HP:0000756)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Anxiety (HP:0000739)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Anxiety (HP:0000739)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Depression (HP:0000716)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Depression (HP:0000716)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: SGCE
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Torticollis (HP:0000473)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: SGCE
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Gene: CACNA1I
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Open mouth (HP:0000194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1I
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Gene: CACNA1H
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Dyslexia (HP:0010522)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Elevated aldosterone:renin ratio (HP:6000318)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Jerky head movements (HP:0006961)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Anxiety (HP:0000739)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Depression (HP:0000716)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Gene: CACNA1H
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Pallor (HP:0000980)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Uncontrolled eye movements (HP:0007738)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Punding (HP:0030218)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1H
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: CACNA1G
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Syndactyly (HP:0001159)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Poor head control (HP:0002421)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Alzheimer disease (HP:0002511)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Eyelid myokymia (HP:0031166)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Eyelid myokymia (HP:0031166)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Scoliosis (HP:0002650)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Spastic gait (HP:0002064)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Loss of Purkinje cells in the cerebellar vermis (HP:0007001)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Hirsutism (HP:0001007)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Head tremor (HP:0002346)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Resting tremor (HP:0002322)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Vertigo (HP:0002321)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)