From HPO
Increased urine alpha-ketoglutarate concentration- MedGen UID:
- 868516
- •Concept ID:
- C4022915
- •
- Finding
A greater than normal concentration of 2-oxoglutaric acid in the urine.
Increased urine succinate level- MedGen UID:
- 1771435
- •Concept ID:
- C5421603
- •
- Finding
The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urine N-acetylaspartic acid level- MedGen UID:
- 1841756
- •Concept ID:
- C5826558
- •
- Finding
The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Febrile seizure (within the age range of 3 months to 6 years)- MedGen UID:
- 3232
- •Concept ID:
- C0009952
- •
- Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Drowsiness- MedGen UID:
- 4390
- •Concept ID:
- C0013144
- •
- Finding
Abnormal feeling of sleepiness or difficulty staying awake.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
CSF pleocytosis- MedGen UID:
- 56247
- •Concept ID:
- C0151857
- •
- Disease or Syndrome
An increased white blood cell count in the cerebrospinal fluid.
Dysmetria- MedGen UID:
- 68583
- •Concept ID:
- C0234162
- •
- Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Abnormal cerebral white matter morphology- MedGen UID:
- 181756
- •Concept ID:
- C0948163
- •
- Pathologic Function
An abnormality of the cerebral white matter.
Increased CSF lactate- MedGen UID:
- 257904
- •Concept ID:
- C1167918
- •
- Finding
Increased concentration of lactate in the cerebrospinal fluid.
Progressive neurologic deterioration- MedGen UID:
- 381506
- •Concept ID:
- C1854838
- •
- Finding
Elevated CSF alpha-ketoglutarate concentration- MedGen UID:
- 1052707
- •Concept ID:
- CN377300
- •
- Finding
The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system