Phenotype #0000350398

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00464375
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRD50
Inheritance	Unknown
Phenotype details	see paper; ..., (growth parameters); motor delay (HP:0001270); autism spectrum disorder (HP:0000729); sign language; wide low nasal root, telecanthus, long philtrum, small mouth, long ears, inverted nipples, 4 café au lait spots.;
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	1.5y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-03-08 17:44:25 +01:00 (CET)
Date last edited	N/A

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