Nestor-Guillermo progeria syndrome
MONDO:0013523Mondo
Findings
No curated finding names Nestor-Guillermo progeria syndrome 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
- Childhood onset
HPO, annotations 2026-09-02
Features
47 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.
- AlopeciaHPOHP:0001596
- 2 of 2 reported patients
- Complete right bundle branch blockHPOHP:0011712
- 2 of 2 reported patients
- Convex nasal ridgeHPOHP:0000444
- 2 of 2 reported patients
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 2 of 2 reported patients
- Dental crowdingHPOHP:0000678
- 2 of 2 reported patients
- Dry skinHPOHP:0000958
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 2 reported patients
- Joint stiffnessHPOHP:0001387
- 2 of 2 reported patients
- Limited elbow movementHPOHP:0002996
- 2 of 2 reported patients
- Mandibular osteolysisHPOHP:0034046
- 4 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- MicroretrognathiaHPOHP:0000308
- 2 of 2 reported patients
Show the remaining 35
- Midface retrusionHPOHP:0011800
- 2 of 2 reported patients
- OsteolysisHPOHP:0002797
- 4 of 4 reported patients
- Osteolytic defects of the distal phalanges of the handHPOHP:0009839
- 2 of 2 reported patients
- OsteoporosisHPOHP:0000939
- 4 of 4 reported patients
- Progressive clavicular acroosteolysisHPOHP:0000905
- 2 of 2 reported patients
- Rib osteolysisHPOHP:0034047
- 2 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.
- BANF1HGNC:17397
- Moderate · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · ClinGen · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
2 names
Resolves to: Nestor-Guillermo progeria syndrome
- Also called
- BANF1-related neurodevelopmental syndromeNGPS