Rare diseases · Sign or symptom
Abnormal myelination
HP:0012447
What it means
Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
Rare diseases that can present with this17
Very common80–99%
3Common30–79%
10- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Cobblestone lissencephaly without muscular or ocular involvement
- Infantile osteopetrosis with neuroaxonal dysplasia
- Monosomy 18q syndrome
- Orofaciodigital syndrome type 14
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
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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.