Rare diseases · Sign or symptom
Cerebral white matter hypoplasia
HP:0012430
What it means
Underdevelopment of the cerebral white matter.
Rare diseases that can present with this11
Common30–79%
4Sometimes5–29%
6- Hereditary cryohydrocytosis with reduced stomatin
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
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: Paucity of cerebral white matter
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.