Phenotype #0000000779

Individual ID	00001609
Associated disease	ID
Diagnosis/Initial	Prader Willi-like syndrome
Diagnosis/Definite	SHFYNG
Inheritance	Isolated (sporadic)
Phenotype details	feeding problems, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, short stature, eye abnormalities, behavioral issues, speech articulation deficits, skin picking, autism spectrum disorder, contractures of the distal interphalangeal joints
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Christian Schaaf
Database submission license	No license selected
Created by	Christian Schaaf
Date created	2013-07-10 21:00:24 +02:00 (CEST)
Date last edited	2025-10-10 18:07:36 +02:00 (CEST)

Global Variome shared LOVD