Global Variome shared LOVD

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

Phenotype #0000045724 Individual ID 00059217 Associated disease KTZS Phenotype details seizure onset: 1st day, neurological findings: marked hypotonia, marked developmental delay; MRI-brain atrophy of left hemisphere, bilateral changes in globus pallidus, probably postictal; teeth opaque enamel of incisors, smooth surface, worn primary molars, cylindric shape, spaced wide Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset - Age/Examination - Protein - Owner name Elisabeth Maurer Database submission license No license selected Created by Elisabeth Maurer Date created 2016-03-03 12:58:09 +01:00 (CET) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.