Global Variome shared LOVD

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Phenotype #0000289368 Individual ID 00396202 Associated disease ? Diagnosis/Initial global developmental delay Diagnosis/Definite SSMCF Phenotype details see paper; ..., postnatal growth retardation, global developmental delay, frontal bossing, high forehead, sparse hair, sparse eyebrows; high myopia, admixed hyper- and hypopigmented macules face, arms, and legs, bilateral syndactyly 4–5 toes Inheritance Familial, autosomal recessive Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-15 11:02:14 +01:00 (CET) Date last edited N/A

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