Global Variome shared LOVD

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Phenotype #0000338889 Individual ID 00449719 Associated disease craniosynost. Phenotype details dystrophic toenail, hypotelorism, intrauterine growth retardation, moderate global developmental delay, postnatal microcephaly and recurrent infections Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite microcephaly, developmental delay and skeletal anomalies (MISA syndrome) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Carmela Fusco Database submission license No license selected Created by Carmela Fusco Date created 2024-05-03 15:00:18 +02:00 (CEST) Date last edited 2024-06-27 17:06:22 +02:00 (CEST)

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