Phenotype #0000344055

Individual ID 00455492
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; no hernia inguinal; hernia umbilical; no chronic diarrhea; cardiomyopathy; valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; platyspondylia; hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability; no seizures
Inheritance Familial, X-linked recessive
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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