Global Variome shared LOVD

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

Phenotype #0000051399 Individual ID 00065258 Associated disease IE Phenotype details Autosomal-Recessive Severe Infantile Encephalopathy; Cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 01y Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Johan den Dunnen Date created 2016-05-26 16:26:42 +02:00 (CEST) Date last edited N/A

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