Global Variome shared LOVD

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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)

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