Phenotype #0000171349

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00226224
Associated disease	MPS3C
Phenotype details	Intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	14y (14 years)
Age/Diagnosis	12y
Age/Onset	02y06m
Phenotype/Onset	Global developmental delay (HP:0001263)
Protein	-
Owner name	Carla Martins
Database submission license	No license selected
Created by	Carla Martins
Date created	2019-03-04 14:26:08 +01:00 (CET)
Date last edited	2019-03-05 08:23:13 +01:00 (CET)

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