TaoMedAI/RareMedData huggingface dataset:
Gene: PEX11B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: High palate (HP:0000218)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Death in infancy (HP:0001522)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Flat face (HP:0012368)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: High forehead (HP:0000348)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Strabismus (HP:0000486)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Flat occiput (HP:0005469)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Myopia (HP:0000545)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: SUCLG1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hypertaurinemia (HP:0500181)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Seizure (HP:0001250)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Abnormal mitochondrial shape (HP:0012087)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Dystonia (HP:0001332)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Floppy infant (HP:0008947)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Vomiting (HP:0002013)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hypothermia (HP:0002045)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hypothermia (HP:0002045)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Polydactyly (HP:0010442)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Apnea (HP:0002104)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Abnormal renal collecting system morphology (HP:0004742)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Short attention span (HP:0000736)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Short humerus (HP:0005792)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Short femur (HP:0003097)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)