Phenotype #0000338889

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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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