Phenotype #0000327864

Individual ID 00437957
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 41w, weight 2.891 (-1.39); no feeding difficulties; global developmental delay; 2y6m-sit unassisted; not yet achieved-first steps; no neurological hypotonia; ; downslanted pf, epicanthus; depressed nasal ridge; narrow mouth; abnormality of the palmar creases, aplasia cutis congenita over the scalp vertex, capillary hemangiomas, reduced subcutaneous adipose tissue
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 3y3m
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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