Global Variome shared LOVD

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

Phenotype #0000230307 Individual ID 00303223 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., moderate developmental delay; no muscular hypotonia; 1y-sitt, 2y6m-walk, dystonic gait; speech impairment, few words; one episode of seizures with cyanosis; no reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction; normal hemoglobin, no thrombocytopenia; no hearing loss; no eye abnormalities; dolicocephaly; no genital abnormalities Inheritance Familial, autosomal recessive Age/Examination 04y06m (4 years, 6 months) 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 2020-06-08 15:20:20 +02:00 (CEST) Date last edited 2020-08-23 10:09:44 +02:00 (CEST)

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