Phenotype #0000210172

Individual ID 00275556
Associated disease ?
Diagnosis/Initial multiple congenital malformations
Diagnosis/Definite VCRL1
Phenotype details vertebral segmentation defects; hypoplastic left heart; renal hypoplasia, dysplasia; no limb defects; sensorineural hearing loss on left side; palsy of left vocal cord
Inheritance Familial, autosomal recessive
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-01-08 16:55:31 +01:00 (CET)
Date last edited N/A

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