lissencephaly 6 with microcephaly
Findings
No curated finding names lissencephaly 6 with microcephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014534), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Simplified gyral patternHPOHP:0009879
Show the remaining 14
- SpasticityHPOHP:0001257
- 2 of 5 reported patients
- SynophrysHPOHP:0000664
- 2 of 5 reported patients
- Limb hypertoniaHPOHP:0002509
- 1 of 4 reported patients
- Periventricular heterotopiaHPOHP:0007165
- 1 of 4 reported patients
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 5 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 5 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.
- KATNB1HGNC:6217
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: lissencephaly 6 with microcephaly
- Also called
- KATNB1 Microlissencephalylissencephaly 6, with microcephalyMicrolissencephaly caused by mutation in KATNB1