Phenotype #0000094160

Individual ID 00119093
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 23d-died (multi organ failure); neonatal onset; low birth weight, lactic acidosis (HP:0003128); encephalopathy (HP:0001298); decreased muscle tone; impaired suckling/swallowing; no epilepsy; intestinal pseudoobstruction; ultrasound neonatal unremarkable; max. serum lactate 25 mmol/l
Inheritance Unknown
Age/Examination -
Age/Diagnosis 00y00m23d
Age/Onset <00y00m00d
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Saskia Wortmann
Database submission license No license selected
Created by Saskia Wortmann
Date created 2017-09-07 11:47:49 +02:00 (CEST)
Date last edited 2021-02-01 09:45:34 +01:00 (CET)

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.