Phenotype #0000090040

Individual ID 00114558
Associated disease MPS2
Phenotype details severe; coarse facial features; scapholocephaly; enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; no retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; no kyphosis; platyspondylia; hydrocephalus; intracranial pressure; no carpal tunnel syndrome; intellectual disability;
Diagnosis/Initial mucopolysaccharidosis
Inheritance Familial, X-linked recessive
Diagnosis/Definite MPS2
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2009-11-28 19:57:45 +01:00 (CET)
Date last edited 2024-10-10 16:32:04 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.