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 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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