lissencephaly type 1 due to doublecortin gene mutation
Findings
No curated finding names lissencephaly type 1 due to doublecortin gene mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.
Definition from the Mondo Disease Ontology (MONDO:0010239), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Language impairmentHPOHP:0002463
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal muscle toneHPOHP:0003808
- Frequent (30% to 79% of cases)
- AgyriaHPOHP:0031882
- Frequent (30% to 79% of cases)
- Akinetic mutismHPOHP:0012672
- Frequent (30% to 79% of cases)
- Cerebral palsyHPOHP:0100021
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Focal-onset seizureHPOHP:0007359
- Frequent (30% to 79% of cases)
- Generalized-onset seizureHPOHP:0002197
- Frequent (30% to 79% of cases)
- Infantile spasmsHPOHP:0012469
- Frequent (30% to 79% of cases)
Show the remaining 18
- PachygyriaHPOHP:0001302
- Frequent (30% to 79% of cases)
- Poor gross motor coordinationHPOHP:0007015
- Frequent (30% to 79% of cases)
- Abnormal caudate nucleus morphologyHPOHP:0002339
- Occasional (5% to 29% of cases)
- AgitationHPOHP:0000713
- Occasional (5% to 29% of cases)
- AspirationHPOHP:0002835
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% 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.
- DCXHGNC:2714
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: lissencephaly type 1 due to doublecortin gene mutation
- Also called
- lissencephaly, X-linkedlissencephaly, X-linked, type 1subcortical laminal heterotopia, X-linkedX-linked lissencephaly type 1