TaoMedAI/RareMedData huggingface dataset:
Gene: KCNQ2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Pallor (HP:0000980)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Cyanosis (HP:0000961)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Eyelid myoclonia seizure (HP:0032678)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: KCNQ2-NEE; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Gene: KCNQ2
Phenotype: Neonatal electro-clinical seizure with behavior arrest (HP:0032823)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Gene: KCNQ2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal EEG discharges with secondary generalization (HP:0011188)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal autonomic seizure (HP:0011154)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ2
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Focal head nodding automatism seizure (HP:0032906)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ2
Phenotype: Visual impairment (HP:0000505)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: KCNQ3
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: KCNQ3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Gene: KCNQ3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Gene: KCNQ3
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: KCNQ3
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: KCNQ3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
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: KCNQ3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Gene: KCNQ3
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Circumoral cyanosis (HP:0032556)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
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: KCNQ3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Gene: KCNQ3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
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: KCNQ3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
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: KCNQ3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
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: KCNQ3
Phenotype: Apnea (HP:0002104)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
Phenotype: Clonus (HP:0002169)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
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: KCNQ3
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Gene: KCNQ3
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
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: KCNQ3
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
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: KCNQ3
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
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: KCNQ3
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Gene: KCNQ3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KCNQ3
Phenotype: Facial tics (HP:0011468)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Cyanosis (HP:0000961)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Eyelid myoclonia seizure (HP:0032678)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Neonatal electro-clinical seizure with behavior arrest (HP:0032823)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Focal EEG discharges with secondary generalization (HP:0011188)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Focal autonomic seizure (HP:0011154)
Associated disease: Self-limited neonatal epilepsy; Benign familial neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Gene: KCNQ3
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Focal head nodding automatism seizure (HP:0032906)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: KCNQ3
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: KDR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KDR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Gene: KDR
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Gene: KDR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KDR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KDR
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KDR
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KDR
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KDR
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Gene: KDR
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KDR
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: KHK
Phenotype: Abnormality of glycolipid metabolism (HP:0010969)
Associated disease: Ketohexokinase deficiency; Essential fructosuria; Fructokinase deficiency (ORPHA:2056)
Gene: KHK
Phenotype: Elevated urine fructose level (HP:6000804)
Associated disease: FRUCTOSURIA, ESSENTIAL (OMIM:229800)
Gene: KHK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRUCTOSURIA, ESSENTIAL (OMIM:229800)
Gene: KHK
Phenotype: Abnormal urine carbohydrate level (HP:0031979)
Associated disease: Ketohexokinase deficiency; Essential fructosuria; Fructokinase deficiency (ORPHA:2056)