lissencephaly 4
MONDO:0013527Mondo
Findings
No curated finding names lissencephaly 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013527), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 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.
- Feeding difficultiesHPOHP:0011968
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Primary microcephalyHPOHP:0011451
- 10 of 10 reported patients · Congenital onset
- Profound intellectual disabilityHPOHP:0002187
- 6 of 6 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 4 reported patients
- Simplified gyral patternHPOHP:0009879
- 5 of 6 reported patients
- SeizureHPO
Show the remaining 4
- Babinski signHPOHP:0003487
- 1 of 3 reported patients
- ColpocephalyHPOHP:0030048
- 1 of 3 reported patients
- Growth delayHPOHP:0001510
- 1 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 3 reported patients
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.
- NDE1HGNC:17619
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: lissencephaly 4
- Also called
- lissencephaly (disease) caused by mutation in NDE1lissencephaly 4 (with microcephaly)lissencephaly type 4NDE1 lissencephaly (disease)