Global Variome shared LOVD

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

Phenotype #0000302357 Individual ID 00410252 Associated disease SPDRS Phenotype details global developmental delay (HP:0001263); involuntary movements (HP:0004305) (shaking head, flapping limbs); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); scoliosis (HP:0002650); feeding difficulties, irritability, poor eye contact, skin pigmentation; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 25y-severe intellectual disability Diagnosis/Initial developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite SPDRS Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 00y01m Phenotype/Onset Irritability (HP:0000737) Protein - Owner name Shiena Watanabe Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Shiena Watanabe Date created 2022-05-22 14:36:58 +02:00 (CEST) Date last edited 2024-11-21 16:18:23 +01:00 (CET)

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