TaoMedAI/RareMedData huggingface dataset:
Gene: TBC1D24
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Malalignment of the great toenail (HP:0031282)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Long thumb (HP:0032524)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Renal agenesis (HP:0000104)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Poor suck (HP:0002033)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Cognitive impairment (HP:0100543)
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: TBC1D24
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
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: TBC1D24
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Cerebral atrophy (HP:0002059)
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: TBC1D24
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Rolandic epilepsy exercise-induced dystonia; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727)
Gene: TBC1D24
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
Gene: TBC1D24
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Focal impaired awareness seizure (HP:0002384)
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: TBC1D24
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Hand tremor (HP:0002378)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Developmental regression (HP:0002376)
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: TBC1D24
Phenotype: Developmental regression (HP:0002376)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Progressive (HP:0003676)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Rolandic epilepsy exercise-induced dystonia; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727)
Gene: TBC1D24
Phenotype: Writer's cramp (HP:0002356)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Slowly progressive (HP:0003677)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
Gene: TBC1D24
Phenotype: Multifocal epileptiform discharges (HP:0010841)
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)