TaoMedAI/RareMedData huggingface dataset:
Gene: MTRFR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Steppage gait (HP:0003376)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Exodeviation (HP:0020049)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Progressive (HP:0003676)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Tibialis anterior muscle atrophy (HP:0011399)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Central scotoma (HP:0000603)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Impaired mastication (HP:0005216)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Strabismus (HP:0000486)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Gene: MTRFR
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Gene: MTRFR
Phenotype: Pes cavus (HP:0001761)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Ptosis (HP:0000508)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe C12ORF65-related combined oxidative phosphorylation defect; Severe C12ORF65-related COXPD; Combined oxidative phosphorylation defect type 7; COXPD7 (ORPHA:254930)
Gene: MTRFR
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: MTRFR
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTRFR
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Gene: NEXN
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: NEXN
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: NEXN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: NEXN
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: NEXN
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: NEXN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Gene: NEXN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: NEXN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: NEXN
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Gene: ATPAF2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Hypertonia (HP:0001276)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Wide mouth (HP:0000154)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Poor suck (HP:0002033)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Gene: ATPAF2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATPAF2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)