Global Variome shared LOVD

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Phenotype #0000000778 Individual ID 00001608 Associated disease ID Diagnosis/Initial Prader Willi-like syndrome Diagnosis/Definite SHFYNG Inheritance Isolated (sporadic) Phenotype details neonatal hypotonia with poor suck, feeding problems, excessive weight gain, hyperphagia, developmental delay, intellectual disability, facial dysmorphia, hypogonadism, eye abnormalities, speech articulation defects, sleep apnea, autism spectrum disorde Age/Examination 08y (8 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 20:27:46 +02:00 (CEST) Date last edited 2025-10-10 18:07:00 +02:00 (CEST)

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