lissencephaly 9 with complex brainstem malformation
MONDO:0032677Mondo
Findings
No curated finding names lissencephaly 9 with complex brainstem malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
45 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.
- Dysgenesis of the hippocampusHPOHP:0025101
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Hypoplastic anterior commissureHPOHP:0030303
- 9 of 9 reported patients
- LissencephalyHPOHP:0001339
- 9 of 9 reported patients
- PachygyriaHPOHP:0001302
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 9 of 9 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- 8 of 9 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 8 of 9 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 8 of 9 reported patients
- Abnormal hippocampus morphologyHPOHP:0025100
- Very frequent (80% to 99% of cases)
- Abnormality of the anterior commissureHPOHP:0030301
- Very frequent (80% to 99% of cases)
Show the remaining 33
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 7 of 9 reported patients
- Cerebellar hemisphere hypoplasiaHPOHP:0100307
- 7 of 9 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 7 of 9 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.
- HGNC:13664HGNC:13664
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021