Phenotype #0000326494

Individual ID 00436314
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite cohesinopathy
Phenotype details see paper; ..., pregnancy normal; birth weight 25th, length 50th, OFC 75th; weight SD −1, length SD 0, OFC SD −1; neonatal period normal; severe intellectual disability; epilepsy; no autistic features; hyperlaxity; MRI brain global brain atrophy; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows
Inheritance Isolated (sporadic)
Age/Examination 29y (29 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.