Phenotype #0000352572

Individual ID 00467365
Associated disease SHFYNG
Phenotype details see paper; ..., neonatal hypotonia, feeding difficulties, developmental delay, hypogonadismand distal contractures
Diagnosis/Initial Schaaf-Yang syndrome
Inheritance Familial
Diagnosis/Definite SHFYNG
Age/Examination 01y02m (1 year, 2 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-12 16:07:40 +02:00 (CEST)
Date last edited 2025-10-12 16:09:49 +02:00 (CEST)

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