Phenotype #0000323848

Individual ID 00433327
Associated disease HYDRO
Phenotype details hydrocephaly; pear-shaped head; laterality defect; MRI enlarged lateral ventricles, hemicerebellum hyploplasia, small cerebellum, cortical atrophy, corpus callosum thin and stretched, globally smaller brain, cyst on midline (supra and infra tentoriel), encephalocele
Diagnosis/Initial hydrocephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
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 2023-03-04 19:42:03 +01:00 (CET)
Date last edited 2023-03-04 21:39:44 +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.