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Start free with EleplanCortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
ORPHA:300570Disease
What it is
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
27- Abnormality of eye movement
- Abnormality of the cerebellar vermis
- Axial hypotonia
- Bilateral ptosis
- Cerebellar hypoplasia
- Delayed ability to sit
- Delayed fine motor development
- Delayed gross motor development
- Esotropia
- Expressive language delay
- Feeding difficulties in infancy
- Hypoplasia of the brainstem
- Hypoplasia of the corpus callosum
- Inability to walk
- Intellectual disability
- Lissencephaly
- Nystagmus
- Partial agenesis of the corpus callosum
- Polymicrogyria
- Poor speech
- Postnatal growth retardation
- Severe global developmental delay
- Simplified gyral pattern
- Spastic ataxia
- Spasticity
- Strabismus
- Type II lissencephaly
Sometimes5–29%
50- Abnormal autonomic nervous system physiology
- Abnormal basal ganglia morphology
- Abnormal best corrected visual acuity test
- Abnormality of thalamus morphology
- Abnormal repetitive mannerisms
- Abnormal saccadic eye movements
- Agenesis of the anterior commissure
- Bilateral sensorineural hearing impairment
and 42 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
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
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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