leukoencephalopathy, progressive, infantile-onset, with or without deafness
MONDO:0030893Mondo
Findings
No curated finding names leukoencephalopathy, progressive, infantile-onset, with or without deafness 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
- Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
35 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.
- AkinesiaHPOHP:0002304
- 1 of 1 reported patient
- Cerebral calcificationHPOHP:0002514
- 8 of 8 reported patients
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 7 of 7 reported patients · Congenital onset
- Decreased activity of mitochondrial respiratory chainHPOHP:0008972
- 1 of 1 reported patient
- Decreased CSF biopterin levelHPOHP:0040209
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 7 of 7 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 5 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Generalized tonic seizureHPOHP:0010818
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
Show the remaining 23
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- Hypochromic microcytic anemiaHPOHP:0004840
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- KetosisHPOHP:0001946
- 1 of 1 reported patient
- LeukoencephalopathyHPOHP:0002352
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
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.
- KARS1HGNC:6215
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: leukoencephalopathy, progressive, infantile-onset, with or without deafness
- Also called
- LEPID