Phenotype #0000185026

Individual ID 00245068
Associated disease ML
Diagnosis/Initial mucolipidosis
Diagnosis/Definite ML-3C
Phenotype details weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset thickened finger joints
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 2019-07-01 17:28:33 +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.