cerebroretinal microangiopathy with calcifications and cysts 3
MONDO:0957264Mondo
Findings
No curated finding names cerebroretinal microangiopathy with calcifications and cysts 3 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 childhood
HPO, annotations 2026-09-02
Features
10 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Cerebral calcificationHPOHP:0002514
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- LeukoencephalopathyHPOHP:0002352
- 2 of 2 reported patients
- Retinal exudateHPOHP:0001147
- 2 of 2 reported patients
- Urinary incontinenceHPOHP:0000020
- 1 of 1 reported patient
- Gastrointestinal hemorrhageHPOHP:0002239
- 1 of 2 reported patients
- Recurrent fracturesHPOHP:0002757
- 1 of 2 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.
- POT1HGNC:17284
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2016
Where it sits
- A kind of