Phenotype #0000337680

Individual ID 00448493
Associated disease MPS1
Phenotype details macrocephaly with coarse features, short stature, short neck, tongue enlargement, hepatomegaly, joint contracture, claw hand deformity, umbilical hernia, dorsal kyphosis, a large Mongolian spot on the back, cloudy cornea, macroglossia, and irregular teeth
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 08y (8 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Lulu Yan
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lulu Yan
Date created 2024-03-15 08:43:12 +01:00 (CET)
Date last edited 2024-03-18 22:37:50 +01:00 (CET)

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