Global Variome shared LOVD

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

Phenotype #0000238666 Individual ID 00314908 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Hypotonia, developmental delay (no vocalizations at 17 months, not walking), growth retardation, microcephaly, minor dysmorphisms (frontal bossing, slightly coarse appearance to the face, prominent lips, protruding simple ears), abnormal neurological screen at birth, bilateral cortical thumbing, bradycardia at birth, hypothyroidism diagnosed at 10 months. Inheritance Unknown Age/Examination 2y (2 years) 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 2020-10-20 15:09:17 +02:00 (CEST) Date last edited N/A

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