Phenotype #0000346619

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00458182
Associated disease	MPS
Diagnosis/Initial	coarse facial features, short stature
Diagnosis/Definite	-
Phenotype details	see paper; ..., ; 28y-coarse facial features, short stature (148 cm, -3.5SD), short neck, mild intellectual disability, enlarged tongue, no hearing impairment, no cardiac murmur, no hepatosplenomegaly, no joint contractures; older brother MPS2, carrier daughter unaffected
Inheritance	Unknown
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-07 15:46:57 +01:00 (CET)
Date last edited	N/A

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