Global Variome shared LOVD

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Phenotype #0000326500 Individual ID 00436320 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite cohesinopathy Phenotype details see paper; ..., pregnancy normal; birth weight 90th; weight SD −1, length SD 0, OFC SD 1; gastro-oesophageal reflux, feeding difficulties; mild developmental delay; no epilepsy; no autistic features; hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; no thin eyebrows Inheritance Isolated (sporadic) Age/Examination 4y (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 2023-09-01 15:10:10 +02:00 (CEST) Date last edited N/A

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