TaoMedAI/RareMedData huggingface dataset:
Gene: SCYL2
Phenotype: Spasticity (HP:0001257)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Death in childhood (HP:0003819)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Skin dimple (HP:0010781)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Hip contracture (HP:0003273)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Death in infancy (HP:0001522)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Breech presentation (HP:0001623)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Short neck (HP:0000470)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Gene: SCYL2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: SCYL2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Gene: TRMU
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Hypotonia (HP:0001252)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Macroglossia (HP:0000158)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Gene: TRMU
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Poor suck (HP:0002033)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Vomiting (HP:0002013)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Ventilator dependence with inability to wean (HP:0005946)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: 3-hydroxydicarboxylic aciduria (HP:0008160)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Aminoglycoside-induced hearing loss (HP:0011975)
Associated disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Gene: TRMU
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Irritability (HP:0000737)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Myopathy (HP:0003198)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Abdominal distention (HP:0003270)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Jaundice (HP:0000952)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: High palate (HP:0000218)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: TRMU
Phenotype: Death in infancy (HP:0001522)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Gene: TRMU
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Reversible infantile cytochrome C oxidase deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile respiratory chain deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency (ORPHA:254864)
Gene: YEATS2
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)