BDV syndrome
MONDO:0859150Mondo
Findings
No curated finding names BDV syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Decreased circulating free T4 concentrationHPOHP:0033078
- 3 of 3 reported patients
- Decreased serum testosterone concentrationHPOHP:0040171
- 1 of 1 reported patient
- Full cheeksHPOHP:0000293
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Primary amenorrheaHPOHP:0000786
- 2 of 2 reported patients
- Reduced TSH response to thyrotrophin-releasing hormone stimulation testHPOHP:0033082
- 1 of 1 reported patient
- Round faceHPOHP:0000311
- 3 of 3 reported patients
- Type II diabetes mellitusHPOHP:0005978
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 3 of 4 reported patients
- Central hypothyroidismHPOHP:0011787
- 2 of 3 reported patients
Show the remaining 11
- Floppy infantHPOHP:0008947
- 2 of 3 reported patients · Infantile onset
- MacrotiaHPOHP:0000400
- 2 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 1 of 2 reported patients
- GynecomastiaHPOHP:0000771
- 1 of 2 reported patients
- HyperinsulinemiaHPOHP:0000842
- 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.
- CPEHGNC:2303
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: BDV syndrome
- Also called
- CPE-related Prader-Willi-like syndrome