Global Variome shared LOVD

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

Phenotype #0000187375 Individual ID 00248381 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite CHOPS Phenotype details see paper; …, Round face, synophrys, downturn corners of the mouth, curly hair, long eyelashes and thick eyebrows; birth weight 2,570 g (−1.1 SD), height 50 cm (+0.8 SD), head circumference 33 cm (+0.1 SD); latest weight 16 kg (−2.1 SD), height 98.5 cm (−4.7SD), head circumferance 47.6 cm (−1.9 SD) ; VSD; None reported; Bilateral conductive hearing loss; Brachydactyly; no genitourinary reported; G tube; Cataract, low lying conus with lipoma of the filum terminale Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-22 21:27:37 +02:00 (CEST) Date last edited 2019-07-22 21:50:41 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.