Phenotype #0000167731

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00219099
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	MRX-102
Inheritance	Isolated (sporadic)
Phenotype details	Short stature, intellectual disability, Strabismus, Cafe-au-lait spot, Atrial septal defect,Hypertonia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); no speech (HP:0001344)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Annalaura Torella
Database submission license	No license selected
Created by	Annalaura Torella
Date created	2019-02-07 15:05:01 +01:00 (CET)
Date last edited	2020-05-12 12:35:33 +02:00 (CEST)

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