microlissencephaly
MONDO:0015204Mondo
Findings
No curated finding names microlissencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
Definition from the Mondo Disease Ontology (MONDO:0015204), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MicrocephalyHPOHP:0000252
- Obligate (100% of cases)
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- Very frequent (80% to 99% of cases)
- Cerebral dysmyelinationHPOHP:0007266
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very frequent (80% to 99% of cases)
- Neuronal loss in the cerebral cortexHPOHP:0007190
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
Show the remaining 10
- LissencephalyHPOHP:0001339
- Frequent (30% to 79% of cases)
- Thick cerebral cortexHPOHP:0006891
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- PachygyriaHPOHP:0001302
- Occasional (5% to 29% of cases)
- Periventricular heterotopiaHPOHP:0007165
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
- Narrower terms (3)