Phenotype #0000337961

Individual ID 00448785
Associated disease ?
Diagnosis/Initial pseudo-hypertriglyceridemia
Diagnosis/Definite GKD
Phenotype details see paper; ..., global developmental delay, axial hypotonia, poor head control, inability to sit unassisted/walk, elevated triglycerides, abnormal accumulation glycerol; carrier mother/younger sister developmental delay
Inheritance Familial
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2024-04-17 09:31:16 +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.