Global Variome shared LOVD

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Phenotype #0000253869 Individual ID 00335954 Associated disease CMS2C Phenotype details (+) Pierre-Robin sequence,(+) Abnormality of eye movement,(+) Ptosis,(+) Muscular hypotonia,(+) Global developmental delay,(+) Bilateral ptosis,(+) Bradycardia,(+) Dysphagia,(+) Poor suck,(+) Apnea,(+) Upper airway obstruction Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 00y05m (5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-10 14:40:29 +01:00 (CET) Date last edited 2021-03-10 15:21:56 +01:00 (CET)

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