Phenotype #0000327862

Individual ID 00437955
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 40w, weight 2.721 (-1.76); feeding difficulties; global developmental delay; language delay; 8m-sit unassisted; 18m-first steps; no neurological hypotonia; ; thin vermilion border; abnormal facial shape; hypermelanotic macule, short foot, short palm, sparse hair
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 7y3m
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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