Global Variome shared LOVD

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

Phenotype #0000306926 Individual ID 00415125 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DEDBANP Phenotype details birth weight 3,780g (83rd), length 53cm (95th), OFC 39cm (99th); 18m-sit; 23m-walk; 15m-first words; developmental delay; mild/moderate intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; hypotonia; stereotypies; no epilepsy; sleep disturbance; MRI brain normal; no facial dysmorphism; congenital macrocephaly; no overweight; joint hypermobility; hyperopia, temporary regression, megadolichocolon Inheritance Isolated (sporadic) Age/Examination 11y (11 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 2022-08-08 15:58:51 +02:00 (CEST) Date last edited 2024-12-10 18:56:22 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.