Global Variome shared LOVD

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Phenotype #0000268052 Individual ID 00372775 Associated disease CLCRP Diagnosis/Initial Cole-Carpenter Syndrome Diagnosis/Definite CLCRP2 Phenotype details see paper; ..., severely disturbed ossification skull, multiple fractures, short stature, craniofacial malformations, macrocephaly, midface hypoplasia, micrognathia, frontal bossing, down-slanting palpebral fissures Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Raymond Dalgleish Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Raymond Dalgleish Date created 2015-04-16 15:14:29 +02:00 (CEST) Date last edited 2026-01-10 10:35:06 +01:00 (CET)

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