lissencephaly 7 with cerebellar hypoplasia
MONDO:0014596Mondo
Findings
No curated finding names lissencephaly 7 with cerebellar hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
22 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.
- Agenesis of corpus callosumHPOHP:0001274
- 10 of 10 reported patients
- AgyriaHPOHP:0031882
- 10 of 10 reported patients
- AreflexiaHPOHP:0001284
- 10 of 10 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 10 of 10 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 10 of 10 reported patients
- Downturned corners of mouthHPOHP:0002714
- 10 of 10 reported patients
- EEG with burst suppressionHPOHP:0010851
- 3 of 3 reported patients
- Full cheeksHPOHP:0000293
- 10 of 10 reported patients
- Hand clenchingHPOHP:0001188
- 10 of 10 reported patients
- HirsutismHPOHP:0001007
- 10 of 10 reported patients
- LissencephalyHPOHP:0001339
- 10 of 10 reported patients
- Low anterior hairlineHPOHP:0000294
- 10 of 10 reported patients
Show the remaining 10
- LymphedemaHPOHP:0001004
- 10 of 10 reported patients
- MicrognathiaHPOHP:0000347
- 10 of 10 reported patients
- Persistent head lagHPOHP:0032988
- 10 of 10 reported patients
- SeizureHPOHP:0001250
- 10 of 10 reported patients
- Small foreheadHPOHP:0000350
- 10 of 10 reported patients
- Abnormal activity of mitochondrial respiratory chainHPOHP:0011922
- 0 of 10 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.
- CDK5HGNC:1774
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of