Ferguson-Bonni neurodevelopmental syndrome
MONDO:0859220Mondo
Findings
No curated finding names Ferguson-Bonni neurodevelopmental 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
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- HypotoniaHPOHP:0001252
- 8 of 11 reported patients
- Pectus excavatumHPOHP:0000767
- 7 of 11 reported patients
- HypertelorismHPOHP:0000316
- 6 of 11 reported patients
- MicrognathiaHPOHP:0000347
- 6 of 11 reported patients
- Hearing impairmentHPOHP:0000365
- 5 of 11 reported patients
- StrabismusHPOHP:0000486
- 5 of 11 reported patients
- High palateHPOHP:0000218
- 3 of 11 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 7 reported patients · Female
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 11 reported patients
- Coronary-pulmonary artery fistulaHPOHP:0025516
- 1 of 11 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 11 reported patients
Show the remaining 3
- Stenosis of the external auditory canalHPOHP:0000402
- 1 of 11 reported patients
- Unilateral ptosisHPOHP:0007687
- 1 of 11 reported patients
- Motor delayHPOHP:0001270
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.
- ANAPC7HGNC:17380
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025