Global Variome shared LOVD

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

Phenotype #0000119275 Individual ID 00146534 Associated disease RD Diagnosis/Initial - Diagnosis/Definite - Phenotype details born 32w; small eyes/nose, low set ears, open mouth; dolicocephalic head, open sutures, wide open anterior fontanelle; taut skin, parched and peeling, shallow respiration; joints/limbs stiff, movement restriction; chest X-ray dysplastic clavicles Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Parag Tamhankar Database submission license No license selected Created by Parag Tamhankar Date created 2009-04-17 13:57:21 +02:00 (CEST) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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