Global Variome shared LOVD

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

Phenotype #0000357141 Individual ID 00472338 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; birth 37w; weight 23.59kg (SD+1.91), height 116.84cm (SD+2.1), OFC 51.4cm (SD+1.17); mild gross motor delay; moderate speech delay, 18m-first word, 3y-2 words , 4y-full sentences; moderate developmental delay; mil-moderate intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (restless leg syndrome); hypotonia, spasticity; involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; reflux as infant, frequent constipation; no congenital heart defects; no endocrine issues; no scoliosis Inheritance Unknown Age/Examination 4.82y 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 2026-02-03 11:21:20 +01:00 (CET) Date last edited N/A

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