Global Variome shared LOVD

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Phenotype #0000307087 Individual ID 00415289 Associated disease - Phenotype details OMIM: 300882; developmental delay, hypotonia, clinodactyly, downturned corners of the mouth, triangular face, and long philtrum Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite Cornelia de Lange Syndrome 5 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-10 20:39:58 +02:00 (CEST) Date last edited N/A

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