Phenotype #0000327881

Individual ID 00437974
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 40w, weight 2.76 (-2.5); hypotonia; no feeding difficulties; mild intellectual disability (IQ78); no global developmental delay; no language delay, 12m-first words; receptive > expressive ; 17m-first steps; ADHD; neurological hypotonia; no epilepsy; MRI brain ventriculomegaly, Chiari 1 malformation, headaches; flat midface; high and broad forehead; plagiocephaly, recurrent otitis media (transtympanic drains needed), amigdalectomy, asthma, scoliosis, chiari i malformation that needed surgery
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 19y
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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