Phenotype #0000344030

Individual ID 00455467
Associated disease MPS
Diagnosis/Initial mucopolysaccharidosis
Diagnosis/Definite MPS2
Phenotype details intermediate; coarse facial features; scapholocephaly; no enlarged tongue; enlarged liver; enlarged spleen; hernia inguinal; hernia umbilical; no chronic diarrhea; no cardiomyopathy; no valve disease; recurrent respiratory infections; hearing loss; adenoids; retinal degeneration; short stature; dislocated hips; joint stiffness fingers/elbows/shoulders/hips/knees; no kyphoscoliosis; kyphosis; platyspondylia; no hydrocephalus; intracranial pressure; carpal tunnel syndrome; no intellectual disability; no seizures
Inheritance Familial, X-linked recessive
Age/Examination 7y (7 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

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.