Global Variome shared LOVD

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Phenotype #0000326499 Individual ID 00436319 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite cohesinopathy Phenotype details see paper; ..., abnormal genitalia; birth weight 30th, length 20th, OFC 75th; weight SD 0, length SD −1, OFC SD −0.5; neonatal hypotonia, feeding difficulties; mild intellectual disability; no epilepsy; no autistic features; no 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 3y9m (3 years, 9 months) 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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