Phenotype #0000125515

Individual ID 00152553
Associated disease MEB
Phenotype details CK 4267 IU/l, cataracts; brain MRI normal, no ventriculomegaly (-HP:0002119), no white matter abnormalities (-HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)
Diagnosis/Initial muscle-eye-brain disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite MDDGA-3
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2018-02-03 14:13:49 +01:00 (CET)
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.