Global Variome shared LOVD

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

Phenotype #0000270799 Individual ID 00375585 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight 2.12kg; OFC 36cm (−6 SD), weight 4.6kg, length 53cm; 24m-died; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); seizures (HP:0001250) (focal); muscular hypotonia (HP:0001252) Inheritance Familial, autosomal recessive Age/Examination 6m Age/Diagnosis - Age/Onset 1d 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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