TaoMedAI/RareMedData huggingface dataset:
Gene: SHOC2
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Gene: SHOC2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: SHOC2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOC2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Gene: SHOC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHOC2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Gene: SHOC2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOC2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOC2
Phenotype: Myopia (HP:0000545)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Gene: CSRP3
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Reduced left ventricular endsystolic diameter (HP:0034386)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Gene: CSRP3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: CSRP3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CSRP3
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Gene: PDHX
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Abnormal circulating pyruvate family amino acid concentration (HP:0010915)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Seizure (HP:0001250)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Seizure (HP:0001250)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Ataxia (HP:0001251)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Variable expressivity (HP:0003828)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Abnormal CSF pyruvate family amino acid concentration (HP:0500231)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Dystonia (HP:0001332)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Congenital onset (HP:0003577)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Epicanthus (HP:0000286)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Microcephaly (HP:0000252)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: High palate (HP:0000218)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: Dihydrolipoyl dehydrogenase deficiency; Pyruvate dehydrogenase protein X component deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase E3-binding protein deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Diaphorase deficiency; 2-oxoglutarate complex deficiency (ORPHA:255182)
Gene: PDHX
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: PDHX
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Gene: FGF23
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT (OMIM:193100)
Gene: FGF23
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Autosomal dominant hypophosphatemia; Autosomal dominant hypophosphatemic rickets; ADHR (ORPHA:89937)
Gene: FGF23
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 (OMIM:617993)
Gene: FGF23
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT (OMIM:193100)
Gene: FGF23
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Bone pain (HP:0002653)
Associated disease: Autosomal dominant hypophosphatemia; Autosomal dominant hypophosphatemic rickets; ADHR (ORPHA:89937)
Gene: FGF23
Phenotype: Bone pain (HP:0002653)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT (OMIM:193100)
Gene: FGF23
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF23
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF23
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)