Global Variome shared LOVD

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

Phenotype #0000351399 Individual ID 00466014 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retardation; birth-38w, 1,870g, 46cm, 32cm; height -3 SD, weight -2.5 SD, OFC -5 SD; severe developmental delay; not walking; speech vocalization; hypertonia, dystonia; anxiety, agitation, relational disorder; no seizures; MRI brain 18m/36ym-global hypotrophy with small frontal lobes; mild pyelocaliceal dilatation; patent ductus arteriosus, patent foramen ovale; hypermetropia; scrotal hypoplasia Inheritance Familial, autosomal recessive Age/Examination 6y6m (6 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 2025-07-07 15:05:37 +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.