TaoMedAI/RareMedData huggingface dataset:
Gene: G6PC3
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Cor triatriatum (HP:0010774)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Perianal abscess (HP:0009789)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Anemia (HP:0001903)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Broad thumb (HP:0011304)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Myopathy (HP:0003198)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Neonatal sepsis (HP:0040187)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: High palate (HP:0000218)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Growth delay (HP:0001510)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Otitis media (HP:0000388)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Panniculitis (HP:0012490)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: TIMM50
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Hypertonia (HP:0001276)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Areflexia (HP:0001284)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Seizure (HP:0001250)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Hypotonia (HP:0001252)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Spasticity (HP:0001257)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Muscle weakness (HP:0001324)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Absent speech (HP:0001344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Absent speech (HP:0001344)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: 3-Methylglutaric aciduria (HP:0003344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Clonus (HP:0002169)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Clonus (HP:0002169)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: High palate (HP:0000218)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Slender build (HP:0001533)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MGA9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria type 9 (ORPHA:505216)
Gene: TIMM50
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Persistent head lag (HP:0032988)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Strabismus (HP:0000486)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Short neck (HP:0000470)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: TIMM50
Phenotype: Long eyelashes (HP:0000527)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Gene: MGME1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Nausea (HP:0002018)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Nausea (HP:0002018)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Dyspnea (HP:0002094)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Diplopia (HP:0000651)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Poor appetite (HP:0004396)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Myopathy (HP:0003198)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Decreased mitochondrial number (HP:0040013)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)
Gene: MGME1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084)
Gene: MGME1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Progressive external ophthalmoplegia-myopathy-emaciation syndrome; PEO-myopathy-emaciation syndrome; mtDNA maintenance syndrome due to MGME1 deficiency; Mitochondrial DNA maintenance syndrome due to MGME1 deficiency (ORPHA:352447)