Phenotype #0000233395

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307972
Associated disease	ID
Diagnosis/Initial	intellectual diability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., Recurrent respiratory infections, Hip dysplasia; Intellectual disability, Bulbous nose, Thin upper lip vermilion, Drooling, Few cafe-au-lait spots, Microcephaly, Failure to thrive
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-23 13:31:08 +02:00 (CEST)
Date last edited	N/A

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