Phenotype #0000327879

Individual ID 00437972
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 40w, weight 2.8 (-1.69); no hypotonia; feeding difficulties; Gastro-oesophageal reflux; no intellectual disability (IQ86); no global developmental delay; 1y-language delay; receptive > expressive ; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain enlarged cerebral spaces;
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 6y
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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