Global Variome shared LOVD

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Phenotype #0000326489 Individual ID 00436309 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite cohesinopathy Phenotype details see paper; ..., intrauterine growth retardation; birth weight 3rd; weight SD −2.5, length SD −1, OFC SD −1.5; neonatal hypotonia; severe intellectual disability; epilepsy; no autistic features; hyperlaxity; MRI brain cerebral atrophy, predominant on the vermis; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows Inheritance Unknown Age/Examination 7y (7 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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