TaoMedAI/RareMedData huggingface dataset:
Gene: PROKR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Obesity (HP:0001513)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Fatigue (HP:0012378)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Strabismus (HP:0000486)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Anosmia (HP:0000458)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Pes planus (HP:0001763)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHMP4B
Phenotype: Anterior subcapsular cataract (HP:0010923)
Associated disease: CATARACT 31, MULTIPLE TYPES (OMIM:605387)
Gene: CHMP4B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 31, MULTIPLE TYPES (OMIM:605387)
Gene: CHMP4B
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 31, MULTIPLE TYPES (OMIM:605387)
Gene: CHMP4B
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: CATARACT 31, MULTIPLE TYPES (OMIM:605387)
Gene: PIGU
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Slender long bone (HP:0003100)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Long nose (HP:0003189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Malar flattening (HP:0000272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: PIGU
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Gene: TANGO2
Phenotype: Stroke (HP:0001297)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Motor delay (HP:0001270)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Seizure (HP:0001250)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Seizure (HP:0001250)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Ataxia (HP:0001251)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Ataxia (HP:0001251)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Dysarthria (HP:0001260)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Coma (HP:0001259)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Dystonia (HP:0001332)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Dystonia (HP:0001332)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Absent speech (HP:0001344)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Babinski sign (HP:0003487)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)