Phenotype #0000043163

Individual ID 00056475
Associated disease MDC
Phenotype details no prenatal findings; mild intellectual delay; cataracts; strabismus; ptosis; long QT syndrome; brain MRI no structural abnormality; CPK 7,323 max U/l; max motor ability w3.5y
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 14d
Phenotype/Onset increased tone, then hypotonia; microcephaly; cataracts; torticollis; ileal atresia
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 2013-07-23 22:58:32 +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.