Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000233418 Individual ID 00307996 Associated disease ? Diagnosis/Initial spondylocarpotarsal synostosis Diagnosis/Definite - Phenotype details see paper; ..., mild short stature; cervical vertebral fusions; thoracic vertebral fusions; lumbar vertebral fusions; no sacral fusions; carpal fusions; tarsal fusions; no cleft palate; mild camptodactyly; no foot contractures; 7th digit clinodactyly; no clubbed feet; limited elbow extenstion; no facial contractures/dysmorphisms; no microcephaly; no craniosynostosis; cleft palate family history in one individual; short neck; no shoulder contractures; no hip/knee contractures; no cortical thumbs; webbing of fingers; no mental retardation; no hyperpyrexia; inguinal hernia family history in one affected individual; no mutiple ptyergium Inheritance Familial, autosomal dominant 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 International Created by Johan den Dunnen Date created 2020-08-25 09:42:04 +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.