Phenotype #0000326497

Individual ID 00436317
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite cohesinopathy
Phenotype details see paper; ..., pregnancy normal; birth weight 60th, length 70th, OFC 30th; weight SD 0, length SD 0, OFC SD 0; neonatal period normal; intellectual disability; staring spells; autistic features; no hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows
Inheritance Isolated (sporadic)
Age/Examination 8y (8 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.