Global Variome shared LOVD

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

Phenotype #0000270804 Individual ID 00375590 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight 3.5kg; ; alive (in critical condition); developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (focal and myoclonic); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270) Inheritance Familial, autosomal recessive Age/Examination 6m Age/Diagnosis - Age/Onset <0d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-11 23:06:52 +02:00 (CEST) Date last edited N/A

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