TaoMedAI/RareMedData huggingface dataset:
Gene: ATP5F1A
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Absent speech (HP:0001344)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: High-pitched cry (HP:0025430)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Apnea (HP:0002104)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Paraparesis (HP:0002385)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Gene: ATP5F1A
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Gene: ATP5F1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Gene: ATP5F1A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1A
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ALDH7A1
Phenotype: Fetal distress (HP:0025116)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Fetal distress (HP:0025116)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Focal aware motor seizure (HP:0020217)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Seizure (HP:0001250)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Low APGAR score (HP:0030917)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Elevated circulating pipecolic acid concentration (HP:6000268)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Irritability (HP:0000737)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Restlessness (HP:0000711)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Elevated circulating alpha-aminoadipic semialdehyde concentration (HP:0034365)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Early onset absence seizures (HP:0011152)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Strabismus (HP:0000486)
Associated disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Gene: ALDH7A1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ALDH7A1
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: Pyridoxine-dependent epilepsy; Vitamin B6-dependent seizures; Antiquitin deficiency (ORPHA:3006)
Gene: ATP5F1B
Phenotype: Hyperisoleucinemia (HP:0010913)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Hyperleucinemia (HP:0010911)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Hypervalinemia (HP:0010910)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Polyphagia (HP:0002591)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Tachypnea (HP:0002789)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Decreased body weight (HP:0004325)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 (OMIM:620085)
Gene: ATP5F1D
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)