Global Variome shared LOVD

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

Phenotype #0000051211 Individual ID 00065105 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details no regression (-HP:0002376), no ventilator dependence (-HP:0004887), hypotonia (HP:0001252), reflexes present, no seizures (-HP:0001250), macrocephaly (HP:0000256), broad forehead (HP:0000337), short neck (HP:0000470) discrete abnormality periventricular and bilateral parietal white matter (HP:0002518), delayed skeletal maturation (HP:0002750); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); speech delay (HP:0000750) Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-18 11:55:11 +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.