Global Variome shared LOVD

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Phenotype #0000129464 Individual ID 00164359 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details short stature (HP:0004322); Chiari malformation (HP:0002308); syringomyelia (HP:0003396); facial dysmorphism (HP:0001999),; cafe-au-lait spots (HP:0000957); inguinal freckling (HP:0030052); mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2018-05-15 10:06:46 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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