cobblestone lissencephaly without muscular or ocular involvement
Findings
No curated finding names cobblestone lissencephaly without muscular or ocular involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.
Definition from the Mondo Disease Ontology (MONDO:0014077), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar hemisphere hypoplasiaHPOHP:0100307
- 4 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 4 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the brainstemHPOHP:0002365
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
Show the remaining 6
- Abnormal myelinationHPOHP:0012447
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- DysgyriaHPOHP:0032398
- Frequent (30% to 79% of cases)
- Gray matter heterotopiaHPOHP:0002282
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
- Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAMB1HGNC:6486
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Unknown · 2016
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: cobblestone lissencephaly without muscular or ocular involvement
- Also called
- cobblestone lissencephaly without muscular or eye involvementlissencephaly type 2 without muscular or eye involvementlissencephaly type 2 without muscular or ocular involvementlissencephaly type 5