Global Variome shared LOVD

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

Phenotype #0000051205 Individual ID 00065095 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details no regression (-HP:0002376), no ventilator dependence (-HP:0004887), paucity of cerebral white matter (HP:0012430), mild hyperintensity and central volume loss on T2-weighted FLAIR, progressively severe hypotonia (HP:0001252), no seizures (-HP:0001250), coarse facial features (HP:0000280), localized hirsutism epicanthal folds (HP:0009889), tented upper lip (HP:0010804), long philtrum (HP:0000343); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); no speech (HP:0001344) Age/Examination 02y (2 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 14:39:14 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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