Global Variome shared LOVD

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

Phenotype #0000092542 Individual ID 00117295 Associated disease KDVS Phenotype details Hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; long face; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; large and/or prominent ears; broad chin; motor delay; moderate intellectual disability; happy, friendly disposition; dislocation of the hip; scoliosis; joint hyperextensibility; laryngospasm Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Giuseppe Marangi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Gerard C.P. Schaafsma Date created 2012-05-31 14:37:29 +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.