Synonym(s): (no synonyms)
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
BMPER	Q8N8U9	608699

- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Myelomeningocele
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Polycystic kidneys
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib number anomalies
- Short neck
- Short rib cage / thorax
- Stillbirth / neonatal death
- Vertebral segmentation anomaly / hemivertebrae