Cree leukoencephalopathy

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Cree leukoencephalopathy

ORPHA:99854Clinical subtype

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal recessive
Classified as
Clinical subtype

Recorded for the broader condition

Age of onset
ChildhoodCACH syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

EIF2B1Disease-causing germline mutation(s)
EIF2B2Disease-causing germline mutation(s)
EIF2B3Disease-causing germline mutation(s)
EIF2B4Disease-causing germline mutation(s)
EIF2B5Disease-causing germline mutation(s)

ICD-10 codes

E75.2filed under a broader ICD-10 category — shared with 67 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

OMIM 603896

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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