Phenotype #0000327893

Individual ID 00437989
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details developmental delay; speech delay; no behavioral problems; no hypotonia; feeding difficulties; head circumference below −2SD, height below −2SD; MRI brain abnormal; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, Pierre Robin sequence, cleft soft palate
Inheritance Familial
Age/Examination 02y01m (2 years, 1 month)
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 11:59:00 +02:00 (CEST)
Date last edited 2023-10-19 11:59:29 +02:00 (CEST)

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