Global Variome shared LOVD

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

Phenotype #0000319003 Individual ID 00428056 Associated disease ? Diagnosis/Initial muscular weakness Diagnosis/Definite - Phenotype details uneventful pregnancy, born at term, weight 2755 g, length 49 cm, OFC 37 cm; 1w-muscular weakness; 2m- microcephaly (<3rd percentile), generalized muscular hypotonia, ECG mild hypertrophic cardiomyopathy; metabolic acidosis, elevated lactate level; MRI brain 3m-normal; progressive developmental delay, persistent microcephaly, deafness; chronic feeding difficulties; epilepsy (West-syndrome); 5y-microcephaly, deafness, severe psychomotor retardation, moderate left ventricular hypertrophy Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-20 10:54:08 +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.