Global Variome shared LOVD

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

Phenotype #0000348032 Individual ID 00460303 Associated disease SIHIWES Phenotype details height 5.5y 112cm (60%), weight 5.5y 21kg (70%), OFC 5.5y 55cm (+3.1SD); motor delay, 2y6m-walk; speech delay, 3y-first words; mild intellectual disability; autism; no hypotonia; ECG normal; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; occasional consiptation Diagnosis/Initial Sifrim-Hitz-Weiss syndrome Inheritance Unknown Diagnosis/Definite SIHIWES Age/Examination 5.5y Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-23 10:07:12 +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.