Global Variome shared LOVD

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Phenotype #0000229655 Individual ID 00302576 Associated disease ? Diagnosis/Initial Silver–Russel syndrome Diagnosis/Definite mulibrey nanism Phenotype details see paper; ..., intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, bilateral fifth finger clinodactyly, left atrial and ventricular enlargement, patent foramen ovale: X-ray hypoplasia twelfth rib bilaterally and coccyx, slender long bones with thick cortex, narrow medullary channels Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Kaisa Kettunen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-25 19:34:11 +02:00 (CEST) Date last edited N/A

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