Global Variome shared LOVD

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

Phenotype #0000231386 Individual ID 00305537 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 38+4w, weight 1340 (<-3 SD), OFC 30 (-3 SD); height 87 (3;1yrs -2 SD), 152.2 (13y9m normal with growth hormone treatment), weight 11.6 (3y1m; normal), 55 (13y9m; normal); developmental delay (mild); epilepsy, 3y-complex focal seizures; facial abnormalities; no cardiac abnormalities; Agenesis of pancreas: exocrine pancreatic insufficiency, transient elevation of liver function test, agenesis of galbladder; Agenesis of pancreas: diabetes mellitus (age day 1 at diagnosis), on growth hormone therapy; Muscle weakness neonatal period; Intrauterine growth retardation; MRI-brain partial/lobular, see PMID 31006513: dysplastic frontal horns of lateral ventricles, absent septum pellucidum, hypoplasia of corpus callosum Inheritance Unknown Age/Examination 11y (11 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 2020-06-28 10:52:31 +02:00 (CEST) Date last edited 2020-06-29 13:45:04 +02:00 (CEST)

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