Phenotype #0000326502

Individual ID 00436322
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite cohesinopathy
Phenotype details see paper; ..., pregnancy normal; birth weight 75th, length 75th, OFC 10th; weight SD +1.5, length SD +1.5, OFC SD −1; neonatal hypotonia; moderate intellectual disability; epilepsy; autistic features; hyperlaxity; MRI brain normal; no high nasal bridge; no deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows
Inheritance Isolated (sporadic)
Age/Examination 3y (3 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 InternationalCreative Commons License
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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