D-2-hydroxyglutaric aciduria 1
Summary
Available tests
Clinical tests (37 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
- Abnormality of the cardiovascular system
- Aortic regurgitation
Aortic regurgitation
- MedGen UID: 8153
- Concept ID: C0003504
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic regurgitation
- Abnormality of the digestive system
- Episodic vomiting
Episodic vomiting
- MedGen UID: 333228
- Concept ID: C1838993
- Finding: Finding
Abnormality of the digestive system
- Episodic vomiting
- Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Cerebral visual impairment
- Abnormality of the genitourinary system
- D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
- MedGen UID: 322192
- Concept ID: C1833429
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Glutaric aciduria
Glutaric aciduria
- MedGen UID: 75695
- Concept ID: C0268594
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- D-2-hydroxyglutaric aciduria
- Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
- Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Elevated CSF D-2-hydroxyglutaric acid concentration
Elevated CSF D-2-hydroxyglutaric acid concentration
- MedGen UID: 1052927
- Concept ID: CN376759
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypsarrhythmia
Hypsarrhythmia
- MedGen UID: 195766
- Concept ID: C0684276
- Finding: Finding
Abnormality of the nervous system
- Infantile encephalopathy
Infantile encephalopathy
- MedGen UID: 343542
- Concept ID: C1856408
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lateral ventricle dilatation
Lateral ventricle dilatation
- MedGen UID: 383904
- Concept ID: C1856409
- Finding: Pathologic Function
Abnormality of the nervous system
- Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities
- MedGen UID: 371562
- Concept ID: C1833434
- Finding: Finding
Abnormality of the nervous system
- Myoclonic seizure
Myoclonic seizure
- MedGen UID: 1385980
- Concept ID: C4317123
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Subependymal cysts
Subependymal cysts
- MedGen UID: 318876
- Concept ID: C1833431
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Tonic seizure
Tonic seizure
- MedGen UID: 82855
- Concept ID: C0270844
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Inspiratory stridor
Inspiratory stridor
- MedGen UID: 146165
- Concept ID: C0677600
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Apnea
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