Global Variome shared LOVD

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

Phenotype #0000311154 Individual ID 00419885 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite CSS10 Phenotype details birth 41w; no IUGR; no failure to thrive; no hypotonia; global developmental delay; gross motor delay; fine motor delay; 4m-sit; 17m-walk; speech delay, 42m-first words; behavioral problems; no hyperactivity/ADHD; no anxiety; sleep disturbance; no microcephaly; MRI brain simple supracentimetric cystic formation of the posterior left crossroads causing asymmetry of the occipital ventricular horns, normal corpus callosum; no seizures; myopia; no strabismus; tear duct obstruction; visual contact disorder; normal hearing; facial dysmorphism, small protrusion of the metopic suture, periorbital filling; bilateral epicanthus, full cheeks full; bulbous lips, cleft palate; bifid uvula; bilateral hypoplasia of 5th toe; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; hypospadias; frequent otis media, supernumerary nipples 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 2022-10-24 18:06:51 +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.