encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MONDO:0020781Mondo
Findings
No curated finding names encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Rapidly progressive · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ComaHPOHP:0001259
- 6 of 6 reported patients
- Elevated brain choline level by MRSHPOHP:0012706
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 5 of 5 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- MyelopathyHPOHP:0002196
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Respiratory failureHPOHP:0002878
- 5 of 5 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- 4 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Cerebellar edemaHPOHP:0030915
- 8 of 12 reported patients
- ConfusionHPOHP:0001289
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- 6 of 11 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 1 of 6 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 38
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- EEG with abnormally slow frequenciesHPOHP:0011203
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 7 of 12 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NAXEHGNC:18453
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
Where it sits
Other names
1 name
Resolves to: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- Also called
- NAD(P)HX epimerase deficiency