Phenotype #0000327890

Individual ID 00437986
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details developmental delay; no intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; no ectodermal symptoms; high palate, atrial septal defect, hyperextensible joints, hypopigmented skin lesions, frequent falling
Inheritance Isolated (sporadic)
Age/Examination 6y8m (6 years, 8 months)
Age/Diagnosis -
Age/Onset -
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 2023-10-19 11:44:38 +02:00 (CEST)
Date last edited N/A

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