Global Variome shared LOVD

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Phenotype #0000347852 Individual ID 00114687 Associated disease SCKL Diagnosis/Initial Seckel syndrome Diagnosis/Definite MOPD2 Phenotype details Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX. Inheritance Familial, autosomal recessive Age/Examination 13y (13 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 12:24:55 +01:00 (CET) Date last edited N/A

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