Phenotype #0000327878

Individual ID 00437971
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 41w+5, weight 3.3 (-0.56); hypotonia; feeding difficulties; global developmental delay; receptive > expressive ; not yet sit unassisted; not yet achieved-first steps; neurological hypotonia; epilepsy, EEG normal; paroxysmal tonic upgaze; MRI brain normal; elevated liver enzymes
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 1y6m
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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