lissencephaly 10
MONDO:0030031Mondo
Findings
No curated finding names lissencephaly 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- EEG abnormalityHPOHP:0002353
- 11 of 11 reported patients
- Posterior predominant subcortical band heterotopiaHPOHP:0032411
- 9 of 13 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 6 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 13 reported patients
- Atonic seizureHPOHP:0010819
- 4 of 12 reported patients
- Tonic seizureHPOHP:0032792
- 3 of 12 reported patients
- PachygyriaHPOHP:0001302
- 3 of 13 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 12 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 12 reported patients
- Generalized-onset seizureHPOHP:0002197
- 2 of 12 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 12 reported patients
Show the remaining 15
- Aggressive behaviorHPOHP:0000718
- 2 of 13 reported patients
- AgyriaHPOHP:0031882
- 2 of 13 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 2 of 13 reported patients
- Suicidal ideationHPOHP:0031589
- 2 of 13 reported patients
- Atypical absence seizureHPOHP:0007270
- 1 of 12 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 12 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.
- CEP85LHGNC:21638
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: lissencephaly 10
- Also called
- LIS10