TaoMedAI/RareMedData huggingface dataset:
Gene: MYO18B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Myopathy (HP:0003198)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Microcephaly (HP:0000252)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: High palate (HP:0000218)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Low-set ears (HP:0000369)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Narrow forehead (HP:0000341)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Long philtrum (HP:0000343)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Micrognathia (HP:0000347)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Short neck (HP:0000470)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Webbed neck (HP:0000465)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYO18B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Ptosis (HP:0000508)
Associated disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Gene: MYO18B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYO18B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COX4I2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Asthma (HP:0002099)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Carious teeth (HP:0000670)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Malnutrition (HP:0004395)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Skin rash (HP:0000988)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Jaundice (HP:0000952)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Osteopenia (HP:0000938)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: COX4I2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Gene: GTPBP3
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Seizure (HP:0001250)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Floppy infant (HP:0008947)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Stridor (HP:0010307)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Cyanosis (HP:0000961)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GTPBP3
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
Gene: GTPBP3
Phenotype: Visual impairment (HP:0000505)
Associated disease: COXPD23; Combined oxidative phosphorylation defect type 23 (ORPHA:444013)
Gene: GPT2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Seizure (HP:0001250)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Tremor (HP:0001337)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Drooling (HP:0002307)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Gene: GPT2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Gene: GPT2
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)