Global Variome shared LOVD

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Phenotype #0000041338 Individual ID 00054659 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; 25w gestation abnormal antenatal scans, enlarged echogenic kidneys/bowel, long-bone growth failure; born 28w due to polyhydramnios; dysmorphic features, brachyphalangy, proximal limb shortening, contractures, left hip dysplasia; bilateral inguinal hernias, bilateral dilatation renal collecting systems, markedly increased echogenicity renal parenchyma; 6w intractable seizures, development regressed; 5m mostly unresponsive, poor vision; 7m died secondary to aspiration; congenital cataracts, intermittent episodes abdominal distress, vomiting, growth failure normal OFC, normal growth; MRI brain normal in neonates, ... 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 International Created by Johan den Dunnen Date created 2015-11-07 18:51:32 +01:00 (CET) Date last edited N/A

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