Global Variome shared LOVD

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

Phenotype #0000119261 Individual ID 00146520 Associated disease RD Diagnosis/Initial - Diagnosis/Definite - Phenotype details IUGR, decreased fetal movements, polyhydramnios; delivery 33w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest, thinned epidermal layers, focal hyperorthokeratosis, partial parakeratosis, immature/poorly developed hair follicles and sebaceous glands Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-05-25 22:10:38 +02:00 (CEST) Date last edited 2012-03-09 18:27:00 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.