Phenotype #0000226741

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00299431
Associated disease	MN
Phenotype details	Neurodevelopmental disorders with craniofacial anomalies
Diagnosis/Initial	Toriello-Carey
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MN1 C-terminal truncation syndrome
Age/Examination	-
Age/Diagnosis	01y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Carmen Palma
Database submission license	No license selected
Created by	Carmen Palma
Date created	2020-04-15 11:18:21 +02:00 (CEST)
Date last edited	2020-04-16 08:29:34 +02:00 (CEST)

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