Phenotype #0000351297

Individual ID 00465848
Associated disease ?
Diagnosis/Initial Desbuquois dysplasia
Diagnosis/Definite DBQD1
Phenotype details see paper; ..., 3m-deceased; intrauterine growth retadation; short stature; advanced bone age; joint dislocations hips, left knee; hands brachydactyly, stubby conical fingers; Swedish key appearance, pelvic dysplasia, hypoplastic vertebrae, short long bones, right knee contracted; patent ductus arteriosus narrow, small thorax; ; very short neck, depressed nasal bridge, short nose, micrognathia, high arched palate
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-06-07 14:19:00 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.