Global Variome shared LOVD

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

Phenotype #0000279505 Individual ID 00385442 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details no cardiac defect; developmental dealy; microcephaly; no intra‐uterine growth retardation; no post‐natal growth retardation; normal oral cavity; normal eyes; sensorineural hearing loss; long philtrum, micrognatia, palpebral fissures slant down, epicanthus, low set ears Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - 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 2021-10-11 14:59:36 +02:00 (CEST) Date last edited 2021-10-13 15:10:26 +02:00 (CEST)

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