Global Variome shared LOVD

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

Phenotype #0000351808 Individual ID 00466445 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDSID Phenotype details see paper; ..., , uncomplicated pregnancy, birth Caesarean section; birth weight 3200g (-0.6 SD); height 102cm (+0.2 SD), weight 16kg (+0.1 SD), BMI 15.4 (-0.1 SD), OFC 54cm (+2.7 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development, approximately 6m behind; motor delay, approximately 6m behind; behavioral abnormality; sleep disturbance, wakes up frequently; -; no seizures; no hypotonia; no morphological abnormalities central nervous system; joint hypermobility, extremely hypermobile; tapered fingers; insatiable appetite; facial dysmorphisms, mild frontal bossing, low nasal bridge ; refractional abnormality; strabismus; respiratory problems at birth Inheritance Isolated (sporadic) Age/Examination 3y6m (3 years, 6 months) 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 2025-09-05 12:24:33 +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.