deafness, congenital, and adult-onset progressive leukoencephalopathy
MONDO:0030967Mondo
Findings
No curated finding names deafness, congenital, and adult-onset progressive leukoencephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Abnormal pyramidal signHPOHP:0007256
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Cognitive impairmentHPOHP:0100543
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Hypointensity of cerebral white matter on MRIHPOHP:0007103
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- LeukodystrophyHPOHP:0002415
- 1 of 1 reported patient
- Mental deteriorationHPOHP:0001268
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
Show the remaining 4
- Profound sensorineural hearing impairmentHPOHP:0011476
- 2 of 2 reported patients · Infantile onset
- Progressive neurologic deteriorationHPOHP:0002344
- 1 of 1 reported patient
- Progressive visual lossHPOHP:0000529
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
Where it sits
- A kind of
Other names
1 name
Resolves to: deafness, congenital, and adult-onset progressive leukoencephalopathy
- Also called
- DEAPLE