TaoMedAI/RareMedData huggingface dataset:
Gene: TBX1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Esotropia (HP:0000565)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Talipes (HP:0001883)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: CNTN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Hippocampal sclerosis (HP:0033715)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Hand tremor (HP:0002378)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Headache (HP:0002315)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: CNTN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: CNTN2
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
Gene: TAFAZZIN
Phenotype: Elevated monolysocardiolipin/cardiolipin ratio (HP:6000517)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Motor delay (HP:0001270)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Gowers sign (HP:0003391)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Myopathic facies (HP:0002058)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Cyclically decreased total neutrophil count (HP:0040289)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Infantile onset (HP:0003593)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Fair hair (HP:0002286)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: Barth syndrome; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia; BTHS; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3-methylglutaconic aciduria type 2 (ORPHA:111)
Gene: TAFAZZIN
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Intermittent lactic acidemia (HP:0004913)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Decreased total granulocyte count (HP:0001913)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Full cheeks (HP:0000293)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Growth delay (HP:0001510)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Fatigue (HP:0012378)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Broad forehead (HP:0000337)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: High forehead (HP:0000348)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Round face (HP:0000311)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Barth syndrome; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia; BTHS; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3-methylglutaconic aciduria type 2 (ORPHA:111)
Gene: TAFAZZIN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Pointed chin (HP:0000307)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TAFAZZIN
Phenotype: Macrotia (HP:0000400)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: Barth syndrome; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia; BTHS; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3-methylglutaconic aciduria type 2 (ORPHA:111)
Gene: TAFAZZIN
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Recurrent infections in infancy and early childhood (HP:0005437)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TAFAZZIN
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Barth syndrome; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia; BTHS; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3-methylglutaconic aciduria type 2 (ORPHA:111)
Gene: TAFAZZIN
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: BARTH SYNDROME (OMIM:302060)
Gene: TBCD
Phenotype: Poor speech (HP:0002465)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Areflexia (HP:0001284)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Spasticity (HP:0001257)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Inability to walk (HP:0002540)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Cataplexy (HP:0002524)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Cataplexy (HP:0002524)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Dystonia (HP:0001332)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Absent speech (HP:0001344)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Absent speech (HP:0001344)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Scoliosis (HP:0002650)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Scoliosis (HP:0002650)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Floppy infant (HP:0008947)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Constipation (HP:0002019)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Dysphagia (HP:0002015)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Gliosis (HP:0002171)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Gene: TBCD
Phenotype: Fasciculations (HP:0002380)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Gene: TBCD
Phenotype: Developmental regression (HP:0002376)
Associated disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)