Phenotype #0000326493

Individual ID 00436313
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite cohesinopathy
Phenotype details see paper; ..., pregnancy normal; birth weight 70th, length 99th, OFC 70th; weight SD 0, length SD 0, OFC SD −1; neonatal period normal; moderate intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; high nasal bridge; deep-set eyes; no wide mouth; no widely spaced central incisors; thin eyebrows
Inheritance Isolated (sporadic)
Age/Examination 9y (9 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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