Global Variome shared LOVD

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

Phenotype #0000337166 Individual ID 00447976 Associated disease ? Diagnosis/Initial - Diagnosis/Definite WSKA Phenotype details see paper; ..., birth weight 2.9 kg (10%ile for 41 weeks), height 33 cm (third%ile); 17m-OFC 41.2 cm (<3%ile); developmental delay, autism spectrum disorder; no hypotonia; normal head shape; no ptosis; no down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; no short upturned nose, no bulbous tip; marked cupid bow/wide philtrum; ventricular septal defect; bilateral urethral reflux; hyperopia; increased appetite; high pain threshold Inheritance Isolated (sporadic) Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-07 20:40:48 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.