TaoMedAI/RareMedData huggingface dataset:
Gene: CEP41
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP41
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP41
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP41
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP41
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP41
Phenotype: Coloboma (HP:0000589)
Associated disease: JOUBERT SYNDROME 15 (OMIM:614464)
Gene: CEP41
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP41
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 15 (OMIM:614464)
Gene: CEP41
Phenotype: Visual loss (HP:0000572)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP41
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP41
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FNIP1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Bronchial wall thickening (HP:0033542)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Crohn's disease (HP:0100280)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Absent circulating B cells (HP:0030252)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: FNIP1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Gene: PRRT2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Language impairment (HP:0002463)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Facial paralysis (HP:0007209)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Hypertonia (HP:0001276)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Confusion (HP:0001289)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Seizure (HP:0001250)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Seizure (HP:0001250)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Seizure (HP:0001250)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Seizure (HP:0001250)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Ataxia (HP:0001251)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Coma (HP:0001259)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Seesaw nystagmus (HP:0012044)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Alien limb phenomenon (HP:0032506)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Experiential epileptic aura (HP:0012002)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Dystonia (HP:0001332)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Staring gaze (HP:0025401)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Rigidity (HP:0002063)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Migraine (HP:0002076)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Migraine (HP:0002076)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Migraine with aura (HP:0002077)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Chorea (HP:0002072)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Apnea (HP:0002104)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PRRT2
Phenotype: Postural instability (HP:0002172)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Dystonia 18; PED; Paroxysmal exertion-induced dyskinesia; DYT18 (ORPHA:98811)
Gene: PRRT2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Decreased vigilance (HP:0032044)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Paroxysmal choreoathetosis (HP:0007098)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Gene: PRRT2
Phenotype: Paroxysmal choreoathetosis (HP:0007098)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Aphasia (HP:0002381)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Gene: PRRT2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: PRRT2
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PRRT2
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: PRRT2
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Gene: PRRT2
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Paroxysmal kinesigenic dyskinesia; Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Gene: PRRT2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: PRRT2
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)