Global Variome shared LOVD

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

Phenotype #0000090053 Individual ID 00114571 Associated disease MPS2 Phenotype details severe; coarse facial features; no scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; no hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; no recurrent respiratory infections; no hearing loss; no adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/hips/knees; no kyphoscoliosis; kyphosis; no platyspondylia; no hydrocephalus; no intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures Diagnosis/Initial mucopolysaccharidosis Inheritance Unknown Diagnosis/Definite MPS2 Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-11-28 19:57:45 +01:00 (CET) Date last edited 2024-10-10 16:34:13 +02:00 (CEST)

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