Phenotype #0000308020

Individual ID 00416253
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 36w-birth with an omphalocele, Apgar score of 2/7, development delayed from birth; cyclic neutropenia,
trombopathy caused by storage pool deficiency; diminished fasting
tolerance resulting in hypoglycemia, disturbed gastric tract motility,
nephropcalcinosis, delayed myelinization; muscle biopsy revealed diminished ATP production, diminished activity of multiple complexes, no mitochondrial DNA abnormalities
Inheritance Unknown
Age/Examination 01y (1 year)
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 2022-08-25 22:07:17 +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.