cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Findings
No curated finding names cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 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
- Death in early adulthood
HPO, annotations 2026-09-02
Features
33 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.
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Severe global developmental delayHPOHP:0011344
- 6 of 6 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 6 of 6 reported patients
- Sleep disturbanceHPOHP:0002360
- 4 of 4 reported patients
- Visual impairmentHPOHP:0000505
- 6 of 6 reported patients
- DystoniaHPOHP:0001332
- 5 of 6 reported patients
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- Developmental cataractHPOHP:0000519
- 4 of 5 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 5 reported patients
- SpasticityHPOHP:0001257
- 4 of 5 reported patients
Show the remaining 21
- Feeding difficultiesHPOHP:0011968
- 4 of 6 reported patients
- Retinal dystrophyHPOHP:0000556
- 3 of 5 reported patients
- AtaxiaHPOHP:0001251
- 2 of 4 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 6 reported patients
- SeizureHPOHP:0001250
- 3 of 6 reported patients
- Visual fixation instabilityHPOHP:0025405
- 3 of 6 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.
- VPS4AHGNC:13488
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
- Also called
- CIMDAG syndrome