Phenotype #0000153417

Individual ID 00205226
Associated disease LS
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset 00y01m15d?
Phenotype/Onset -
Phenotype details Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), elevated blood and CSF lactate levels (HP:0003128)
Protein -
Owner name Sze Chern Lim
Database submission license No license selected
Created by Sze Chern Lim
Date created 2018-11-11 02:21:51 +01:00 (CET)
Date last edited 2018-11-22 09:15:16 +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.