Global Variome shared LOVD

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

Phenotype #0000207688 Individual ID 00269892 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Profound global developmental delay (HP:0012736); Seizures (HP:0001250); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Inability to walk (HP:0002540); Abnormal visual fixation (HP:0025404); Dysphagia (HP:0002015); Patent ductus arteriosus (HP:0001643); Scoliosis (HP:0002650) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2019-12-10 12:31:53 +01:00 (CET) Date last edited 2020-04-01 13:57:49 +02:00 (CEST)

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