TaoMedAI/RareMedData huggingface dataset:
Gene: ATP5F1D
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Gait imbalance (HP:0002141)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Elevated serum anion gap (HP:0031962)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Gene: ATP5F1D
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1D
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)
Gene: ATP5F1E
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5F1E
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MC3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Adult onset (HP:0003581)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP5MC3
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Gene: ATP6V1A
Phenotype: Poor speech (HP:0002465)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1A
Phenotype: Narrow naris (HP:0009933)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1A
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Simple ear (HP:0020206)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Subretinal pigment epithelium hemorrhage (HP:0025244)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Motor delay (HP:0001270)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Seizure (HP:0001250)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)