Global Variome shared LOVD

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

Phenotype #0000051209 Individual ID 00065103 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details no regression (-HP:0002376), no ventilator dependence (-HP:0004887), severe hypotonia (HP:0001252), areflexia lower limbs (HP:0002522), pectus excavatum (HP:0000767), pulmonic stenosis (HP:0001642), no seizures (-HP:0001250), discrete abnormality periventricular and bilateral parietal white matter (HP:0002518); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); poor speech (HP:0002465) Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-17 15:17:43 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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