Global Variome shared LOVD

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

Phenotype #0000304342 Individual ID 00412337 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment early childhood; height -1.93 SD, OFC -0.40 SD; no microcephaly; borderline short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved, babbling (intermittent) as toddler; no seizures/epilepsy; hypotonia; normal joints; normal movement; cortical visual impairment; normal hearing; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, self-stimulatory behavior (rocking, thumb biting and sucking); no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain global cortical atrophy, otherwise normal; EEG normal; Inheritance Isolated (sporadic) Age/Examination - 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 2022-06-27 19:18:04 +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.