hypomyelinating leukodystrophy 5
MeSH: C567166ORPHA: 85163
Overview
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hypomyelinating leukodystrophy 5, sourced from HPO and Orphanet clinical annotations.
Developmental cataractGlobal developmental delayAbnormal cerebellum morphologyModerate intellectual disabilityCerebral hypomyelinationAbnormal pyramidal sign
Classification & Codes
MeSH Code
C567166Orphanet Code
ORPHA:85163hypomyelinating leukodystrophy 5
| MeSH | C567166 |
| Orphanet | ORPHA:85163 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO