Global Variome shared LOVD

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Phenotype #0000340347 Individual ID 00451687 Associated disease APMR Diagnosis/Initial alopecia-mental retardation syndrome Diagnosis/Definite APMR4 Phenotype details see paper; ...,respiratory distress; complete hair loss scalp, eyelashes, eyebrows; microcephalic (OFC -2.3 SD), normal weight, normal height; developmental delay; facial dysmorphism; short stature; growth retardation; umbilical hernia; hyperextensibility joints; tooth mineralization defect; dental deep overbite Inheritance Familial, autosomal recessive Age/Examination 02y06m (2 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Nesma M. Elaraby Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-06-28 15:19:04 +02:00 (CEST) Date last edited 2024-06-28 15:25:08 +02:00 (CEST)

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