TaoMedAI/RareMedData huggingface dataset:
Gene: TBC1D24
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Triphalangeal thumb (HP:0001199)
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: Triphalangeal thumb (HP:0001199)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Poor visual behavior for age (HP:0025152)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Short distal phalanx of finger (HP:0009882)
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 hypotonia (HP:0001290)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Hypertonia (HP:0001276)
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: Cerebellar atrophy (HP:0001272)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
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: Motor delay (HP:0001270)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Hemiparesis (HP:0001269)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Seizure (HP:0001250)
Associated disease: Rolandic epilepsy exercise-induced dystonia; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727)
Gene: TBC1D24
Phenotype: Seizure (HP:0001250)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Seizure (HP:0001250)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Seizure (HP:0001250)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Ataxia (HP:0001251)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Hyporeflexia (HP:0001265)
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: Hyporeflexia (HP:0001265)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Dysarthria (HP:0001260)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Abnormal fingernail morphology (HP:0001231)
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: Periventricular nodular heterotopia (HP:0032388)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Focal hemifacial clonic seizure (HP:0007332)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Focal hemifacial clonic seizure (HP:0007332)
Associated disease: Rolandic epilepsy exercise-induced dystonia; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727)
Gene: TBC1D24
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
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: Inability to walk (HP:0002540)
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: Hypsarrhythmia (HP:0002521)
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: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Ambiguous genitalia (HP:0000062)
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: Abnormality of the urinary system (HP:0000079)
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: EEG with parietal focal spike waves (HP:0012012)
Associated disease: Rolandic epilepsy exercise-induced dystonia; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727)
Gene: TBC1D24
Phenotype: Dystonia (HP:0001332)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
Gene: TBC1D24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
Gene: TBC1D24
Phenotype: Myoclonus (HP:0001336)
Associated disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Gene: TBC1D24
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Myoclonus (HP:0001336)
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: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Dandy-Walker malformation (HP:0001305)
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: Scoliosis (HP:0002650)
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: Broad alveolar ridges (HP:0000187)
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: Narrow palate (HP:0000189)
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: Thick lower lip vermilion (HP:0000179)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Thick lower lip vermilion (HP:0000179)
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: Open mouth (HP:0000194)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Open mouth (HP:0000194)
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: Abnormality of the dentition (HP:0000164)
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 ptosis (HP:0001488)
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: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Floppy infant (HP:0008947)
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)