Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000344037 Individual ID 00455474 Associated disease MPS Diagnosis/Initial mucopolysaccharidosis Diagnosis/Definite MPS2 Phenotype details severe; coarse facial features; no scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; no hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; no short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; no carpal tunnel syndrome; no intellectual disability; Inheritance Familial, X-linked recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-10-10 16:27:44 +02:00 (CEST) Date last edited N/A

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