Phenotype #0000327855

Individual ID 00437948
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details see paper; ..., birth 40w, weight 2.75 (-1.5); no hypotonia; feeding difficulties; NG feeding; moderate intellectual disability; global developmental delay; language delay; 12m-sit unassisted; 24m-first steps; neurological hypotonia; scoliosis, strabismus, ataxic gait; MRI brain cerebellar atrophy; donwslanted pf; broad nasal tip, short nose; narrow mouth; infra-orbital crease; frontal bossing; vomiting, compensatory scoliosis, strabismus
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 1y6m
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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