FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
MONDO:0018443Mondo
Findings
No curated finding names FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
18 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 cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Choroidal neovascularizationHPOHP:0011506
- Frequent (30% to 79% of cases)
- Congenital bilateral hip dislocationHPOHP:0008780
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Infantile spasmsHPOHP:0012469
- Frequent (30% to 79% of cases)
- Macular degenerationHPOHP:0000608
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
Show the remaining 6
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Nonprogressive encephalopathyHPOHP:0007030
- Frequent (30% to 79% of cases)
- Pseudobulbar signsHPOHP:0002200
- Frequent (30% to 79% of cases)
- Spastic tetraparesisHPOHP:0001285
- Frequent (30% to 79% of cases)
- SyndactylyHPOHP:0001159
- Frequent (30% to 79% of cases)
- SyringomyeliaHPOHP:0003396
- Frequent (30% to 79% of cases)
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.
- FBLN1HGNC:3600
- Supportive · Orphanet · Autosomal recessive · 2021