Global Variome shared LOVD

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

Phenotype #0000254750 Individual ID 00336023 Associated disease LEPID Diagnosis/Initial - Diagnosis/Definite LEPID Phenotype details current OFC -1.4; growth delay; developmental delay/intellectual disability; movement disorder; seizures; hearing loss; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) Inheritance Familial, autosomal recessive Age/Examination 17y05m (17 years, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Gerarda Cappuccio Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2021-03-23 13:41:34 +01:00 (CET) Date last edited 2021-03-25 14:52:23 +01:00 (CET)

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