Global Variome shared LOVD

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Phenotype #0000326496 Individual ID 00436316 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite cohesinopathy Phenotype details see paper; ..., pregnancy normal; birth weight 50th; weight SD +1, length SD −1, OFC SD −1; neonatal hypotonia, feeding difficulties, gastro-oesophageal reflux; mild developmental delay; epilepsy; autistic features; no hyperlaxity; MRI brain small area of heterotopia; no high nasal bridge; no deep-set eyes; no wide mouth; no widely spaced central incisors; no thin eyebrows Inheritance Isolated (sporadic) Age/Examination 2y6m (2 years, 6 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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