Global Variome shared LOVD

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Phenotype #0000203692 Individual ID 00265914 Associated disease MACS Phenotype details height 111cm (-0.6 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, no alopecia, no scoliosis, no cutis laxa, umbilical hernia, facial coarsening Diagnosis/Initial RIN2 syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite MACS Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sadaf Naz Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-11 17:22:36 +02:00 (CEST) Date last edited N/A

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