TaoMedAI/RareMedData huggingface dataset:
Gene: TBC1D24
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Brachycephaly (HP:0000248)
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: Thin upper lip vermilion (HP:0000219)
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: Thin upper lip vermilion (HP:0000219)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: High palate (HP:0000218)
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: High palate (HP:0000218)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Gingival overgrowth (HP:0000212)
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: Polyhydramnios (HP:0001561)
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: Everted lower lip vermilion (HP:0000232)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Short lingual frenulum (HP:0000200)
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: 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: TBC1D24
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: TBC1D24
Phenotype: Hemivertebrae (HP:0002937)
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: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
Gene: TBC1D24
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Small cerebellar cortex (HP:0031423)
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: High myopia (HP:0011003)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Low-set ears (HP:0000369)
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: Low-set ears (HP:0000369)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Long philtrum (HP:0000343)
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 philtrum (HP:0000343)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
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: TBC1D24
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Gene: TBC1D24
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Gene: TBC1D24
Phenotype: Capillary hemangioma (HP:0005306)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
Gene: TBC1D24
Phenotype: Double outlet right ventricle (HP:0001719)
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: Strabismus (HP:0000486)
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: Anteverted nares (HP:0000463)
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: Anteverted nares (HP:0000463)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
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: TBC1D24
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Broad nasal tip (HP:0000455)
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: Thickened nuchal skin fold (HP:0000474)
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: Thickened nuchal skin fold (HP:0000474)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Anonychia (HP:0001798)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Abnormal toe morphology (HP:0001780)
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 vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
Gene: TBC1D24
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
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: Bulbous nose (HP:0000414)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Bulbous nose (HP:0000414)
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: Atresia of the external auditory canal (HP:0000413)
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: Wide nasal bridge (HP:0000431)
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: Wide nasal bridge (HP:0000431)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: EEG with parietal sharp waves (HP:0011295)
Associated disease: Rolandic epilepsy exercise-induced dystonia; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (ORPHA:163727)
Gene: TBC1D24
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Cataract (HP:0000518)
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: Cataract (HP:0000518)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Proptosis (HP:0000520)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Ptosis (HP:0000508)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
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: TBC1D24
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Gene: TBC1D24
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)