TaoMedAI/RareMedData huggingface dataset:
Gene: ARHGAP31
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARHGAP31
Phenotype: Absent hand (HP:0004050)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Strabismus (HP:0000486)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Small nail (HP:0001792)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Cataract (HP:0000518)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARHGAP31
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Absent fingernail (HP:0001817)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Microphthalmia (HP:0000568)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Esotropia (HP:0000565)
Associated disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Gene: ARHGAP31
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARHGAP31
Phenotype: Talipes (HP:0001883)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: ARHGAP31
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARHGAP31
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: HECW2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: HECW2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Gene: SRGAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: SRGAP1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: SRGAP1
Phenotype: Non-medullary thyroid carcinoma (HP:0040198)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: SRGAP1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: SRGAP1
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: PCDH19
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Motor delay (HP:0001270)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Photosensitive myoclonic seizure (HP:0001327)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Myoclonus (HP:0001336)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Floppy infant (HP:0008947)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Rigidity (HP:0002063)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Impulsivity (HP:0100710)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Impulsivity (HP:0100710)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Action tremor (HP:0002345)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Tibial torsion (HP:0100694)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Incoordination (HP:0002311)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Drooling (HP:0002307)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Limited knee extension (HP:0003066)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)