Phenotype #0000327871

Individual ID 00437964
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 32w+6, weight 1.58 (-0.88); no hypotonia; feeding difficulties; Hyperbilirubinemia, IRDS, apnoea; mild intellectual disability (IQ71); global developmental delay; 1y-language delay; receptive > expressive ; 9m-sit unassisted; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; sleeping problems; orofacial cleft, conductive hearing loss
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 8y1m
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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