Global Variome shared LOVD

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Phenotype #0000326488 Individual ID 00436308 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite cohesinopathy Phenotype details see paper; ..., pregnancy normal; birth weight 3rd; weight SD 0, length SD 0, OFC SD 0; neonatal feeding difficulties; severe intellectual disability; no epilepsy; autistic features; no hyperlaxity; MRI brain atrophy right hemisphere; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows Inheritance Isolated (sporadic) Age/Examination 33y (33 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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