cerebral palsy, spastic quadriplegic, 3
Findings
No curated finding names cerebral palsy, spastic quadriplegic, 3 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 ADD3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014862), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- SpasticityHPOHP:0001257
- 4 of 4 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 2 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 4 reported patients
- DysphagiaHPOHP:0002015
- 2 of 4 reported patients
- Convergence-retraction nystagmusHPOHP:0025711
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.
- ADD3HGNC:245
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: cerebral palsy, spastic quadriplegic, 3
- Also called
- ADD3 spastic quadriplegiacerebral palsy, spastic quadriplegic, 3; CPSQ3cerebral palsy, spastic quadriplegic, type 3CPSQ3spastic quadriplegia caused by mutation in ADD3