Global Variome shared LOVD

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

Phenotype #0000187374 Individual ID 00248380 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite CHOPS Phenotype details see paper; …, Round face, brachiocephaly, microcephaly, long eyelashes, high arch eyebrows/curved, broad ICD, ears cupped and somewhat simplified; birth weight 1,170 g (−3.13 SD); latest weight 17.3 kg (−1.5 SD), height 88 cm (−5.7 SD), head circumferance 48 cm (−2.6 SD) ; PDA, PFO; Chronic lung disease due to apnea and aspirations, tracheostomy; Bilateral sensorineural hearing loss (improved); None reported; no genitourinary reported; G tube; Cataract, myopia, amblyopia, exophoria, growth hormone deficiency Inheritance Isolated (sporadic) Age/Examination 06y (6 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 21:50:12 +02:00 (CEST)

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