TaoMedAI/RareMedData huggingface dataset:
Gene: SUCLG1
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Growth delay (HP:0001510)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
Gene: SUCLG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Strabismus (HP:0000486)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLG1
Phenotype: Ptosis (HP:0000508)
Associated disease: Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
Gene: SUCLA2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Seizure (HP:0001250)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Ataxia (HP:0001251)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Inability to walk (HP:0002540)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Decreased activity of mitochondrial respiratory chain (HP:0008972)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Loss of ability to walk in early childhood (HP:0008945)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Athetosis (HP:0002305)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Short stature (HP:0004322)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Cachexia (HP:0004326)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Strabismus (HP:0000486)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Ptosis (HP:0000508)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: SUCLA2
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Gene: SUCLA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome (ORPHA:1933)
Gene: CCNK
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: High anterior hairline (HP:0009890)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Narrow jaw (HP:0012801)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Gene: CCNK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)