Global Variome shared LOVD

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

Phenotype #0000037247 Individual ID 00050635 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details global developmental delay, joint hypermobility, sparse scalp hair, sparse lateral eyebrow, highly arched eyebrow, strabismus, edema, spontaneous neonatal pneumothorax, umbilical hernia, hypopigmentation of the skin, 3-4 toe syndactyly, sandal gap, ventriculomegaly, generalized neonatal hypotonia, nocturnal hypoventilation, hip dysplasia, unilateral ptosis, upslanted palpebral fissure, inverted nipples Inheritance Isolated (sporadic) 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 2015-09-27 16:16:40 +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.