Global Variome shared LOVD

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

Phenotype #0000352574 Individual ID 00467367 Associated disease SHFYNG Phenotype details acc. Patak-31397880 polyhydraominos, respiratory failure, apnea, hypotonia, tracheal stoma issues, poor suck, distal arthrogryposis, up-slanting palpebral fissures, bitemporal narrowing, high nasal bridge, low-set ears, prominent chin, micrognathia, developmental delay, autism spectrum disorder Diagnosis/Initial Schaaf‐Yang syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SHFYNG Age/Examination 9m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 16:28:54 +02:00 (CEST) Date last edited N/A

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