Global Variome shared LOVD

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Phenotype #0000346601 Individual ID 00458165 Associated disease DD Phenotype details see paper; ..., 36w-birth, weight 2,800 g (50th centile), OFC 34 cm (75th centile), unexplained jaundice; 9m-developmental delay, unable to lift head stably, unable to turnover, eyes do not track properly, hypotonia; MRI brain T1 signal globus pallidus both sides slightly higher, T2W signal paraventricular white matter both sides slightly higher, cerebral grooves each lobe cerebral hemisphere slightly deeper, ventricles both sides full, subarachnoid cavities both sides slightly wider, normal cerebellum/brain stem, midline structurenot displaced Diagnosis/Initial developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite MMDS9B Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-03 16:46:24 +01:00 (CET) Date last edited N/A

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