Rare diseases · Sign or symptom
Cerebral hypomyelination
HP:0006808
What it means
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
Rare diseases that can present with this16
Very common80–99%
4Common30–79%
6- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Folinic acid-responsive seizures
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hypomyelination of the brain
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.