Global Variome shared LOVD

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Phenotype #0000000780 Individual ID 00001610 Associated disease ID Diagnosis/Initial Prader Willi-like syndrome Diagnosis/Definite SHFYNG Inheritance Isolated (sporadic) Phenotype details neonatal hypotonia with poor suck, feeding problems, hyperphagia, developmental delay, intellectual disability, infantile lethargy, short stature, small hands, narrow hands, behavioral issues, speech articulation deficits, skin picking, sleep apnea, autism spectrum disorder, contractures of the distal interphalangeal joints Age/Examination 19y (19 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 21:08:13 +02:00 (CEST) Date last edited 2025-10-10 18:08:32 +02:00 (CEST)

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