Overview
Blakemore Durmaz Vasileiou syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased circulating free T4 concentration
Always present (100%)HP:0033078
Decreased serum testosterone level
Always present (100%)HP:0040171
Hyperplasia of cheeks
Always present (100%)HP:0000293
Hypoplastic mandible
Always present (100%)HP:0000347
Mental-retardation
Always present (100%)HP:0001249
NIDDM
Always present (100%)HP:0005978
No development of motor milestones
Always present (100%)HP:0001270
Primary amenorrhea
Always present (100%)HP:0000786
Reduced TSH response to thyrotrophin-releasing hormone stimulation test
Always present (100%)HP:0033082
Round, full face
Always present (100%)HP:0000311
Atria septal defect
Frequent (30-79%)HP:0001631
Central hypothyroidism
Frequent (30-79%)HP:0011787
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased circulating follicle stimulating hormone concentration
Frequent (30-79%)HP:0030341
Decreased thyrotropin level
Frequent (30-79%)HP:0031098
Delayed puberty
Frequent (30-79%)HP:0000823
Gynaecomastia
Frequent (30-79%)HP:0000771
Hyperinsulinemia
Frequent (30-79%)HP:0000842
Hypotonia, early
Frequent (30-79%)HP:0008947
Isolated hypogonadotropic hypogonadism
Frequent (30-79%)HP:0000044
Macrotia
Frequent (30-79%)HP:0000400
Obesity
Frequent (30-79%)HP:0001513
Short penis
Frequent (30-79%)HP:0000054
Quick Facts
- SNOMED CT
- 1340175001
- UMLS CUI
- C5543403
- Fully Specified Name
- Carboxypeptidase E-related Prader-Willi-like syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.