Global Variome shared LOVD

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

Phenotype #0000271666 Individual ID 00376459 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth-40w; delayed motor development; head control-4m; roll-6m; never sit; never walked; profound intellectual disability; no autistic behavior; language comprehension; speech simple words; spastic diplegia; wheelchair bound; no infantile hypotonia; no history of regression; epilepsy; EEG 3-Hz spike-wave discharges on the right frontal quadrant during sleep; MRI brain cerebral atrophy (mild, right hemisphere); no delayed myelination; corpus callosum hypoplasia; no round face; prominent nasal bridge; thin upper lip; short stature; obesity Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2021-06-24 16:01:16 +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.