Phenotype #0000269612

Individual ID 00374402
Associated disease ?
Diagnosis/Initial spasticity
Diagnosis/Definite -
Phenotype details Global developmental delay, seizures, spasticity, tremors, pancytopenia, optic atrophy, alopecia, hyperpigmentation and recurrent respiratory tract infection. MRI showed white matter hyperintensities and mild prominence of bilateral subarachnoid spaces
Inheritance Familial, autosomal recessive
Age/Examination -
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 2021-05-24 20:06:48 +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.