Global Variome shared LOVD

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

Phenotype #0000223488 Individual ID 00296021 Associated disease ? Diagnosis/Initial multiple congenital anomalies Diagnosis/Definite - Phenotype details birth weight <50%, length 10%, head circumference 25%; 6m, head circumference <3%; broad face low anterior hairline; epicanthal folds; low set, cupped right ear; depressed nasal tip; cleft soft palate; large atrial septal defect, respiratory difficulty; uterine didelphys; hip dysplasia, proximal upper extremity and distal lower extremity shortening; hindfoot deformity; hypotonia; severe delay; thalamostriate vasculopathy, thin corpus callosum, hypomyelination Inheritance Isolated (sporadic) Age/Examination 00y06m (6 months) 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 2020-04-02 15:07:01 +02:00 (CEST) Date last edited N/A

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