fibrosis, neurodegeneration, and cerebral angiomatosis
MONDO:0032651Mondo
Findings
No curated finding names fibrosis, neurodegeneration, and cerebral angiomatosis 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
- Neonatal onset · Death in childhood
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.
- AtelectasisHPOHP:0100750
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 3 of 3 reported patients
- Brain atrophyHPOHP:0012444
- 3 of 3 reported patients
- Chronic hemolytic anemiaHPOHP:0004870
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 3 of 3 reported patients
- DystoniaHPOHP:0001332
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
Show the remaining 21
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- IrritabilityHPOHP:0000737
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
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.
- NHLRC2HGNC:24731
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: fibrosis, neurodegeneration, and cerebral angiomatosis
- Also called
- fibrosis-neurodegeneration-cerebral angiomatosis syndromeFINCAFINCA syndrome