Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000021239 Individual ID 00025127 Associated disease NEDDSBA;MRT42;GPIBD9 Phenotype details The patients had global developmental delay, hand and foot tremors, and spasticity. The older brother could walk with support. Both had increased deep tendon reflexes. The older brother had prominent cortical sulci and widened sylvian fissures; the younger brother had agenesis of the corpus callosum, cerebellar vermis hypoplasia, and defective myelination. The older brother had borderline intelligence. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2014-12-05 17:18:44 +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.