Phenotype #0000327880

Individual ID 00437973
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 40w, weight 2.3 (-2.87); hypotonia; feeding difficulties; severe intellectual disability; non-verbal; receptive > expressive ; 2.5y-first steps; autism spectrum disorder; neurological hypotonia; no epilepsy; MRI brain dysplastic, ventriculomegaly; multiple vsds; bilateral iris and chorioretinal coloboma; deafness (mixed hearing loss); immunodeficiency (bronchiectasis, t cell lymphopenia, low iga, igg
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 11y4m
Phenotype/Onset -
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 2023-10-17 21:19:59 +02:00 (CEST)
Date last edited N/A

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