Phenotype #0000326492

Individual ID 00436312
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite cohesinopathy
Phenotype details see paper; ..., increased nuchal translucency, hydramnios, ventriculo-septal defect, single umbilical artery, asymmetric cerebral ventricles, small periventricular cysts; birth weight 70th, length 80th, OFC 80th; weight SD 0, length SD −1, OFC SD +1; neonatal gastro-oesophageal reflux, vesicoureteral reflux; intellectual disability; epilepsy; no autistic features; no hyperlaxity; MRI brain dilatation of ventricles and pericerebral space, partial vermis hypoplasia; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows
Inheritance Unknown
Age/Examination 6y (6 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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