Global Variome shared LOVD

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Phenotype #0000347851 Individual ID 00114686 Associated disease SCKL Diagnosis/Initial Seckel syndrome Diagnosis/Definite MOPD2 Phenotype details Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay; MRI thin corpus callosum, increased extra-axial spaces, reduced white matter; 46XY Inheritance Familial, autosomal recessive Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2025-01-18 11:45:20 +01:00 (CET) Date last edited 2025-01-18 11:45:58 +01:00 (CET)

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