cerebral palsy, spastic quadriplegic, 2
Findings
No curated finding names cerebral palsy, spastic quadriplegic, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013033), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance with maternal imprinting
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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.
- Cerebral atrophyHPOHP:0002059
- Cerebral palsyHPOHP:0100021
- HypotoniaHPOHP:0001252
- Congenital onset
- Intellectual disabilityHPOHP:0001249
- NystagmusHPOHP:0000639
- Spastic tetraplegiaHPOHP:0002510
- VentriculomegalyHPOHP:0002119
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.
- KANK1HGNC:19309
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · G2P · Autosomal dominant · 2015
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: cerebral palsy, spastic quadriplegic, 2
- Also called
- cerebral palsy, spastic quadriplegic, type 2KANK1 spastic quadriplegiaspastic quadriplegia caused by mutation in KANK1