Phenotype #0000337169

Individual ID 00447980
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite WSKA
Phenotype details see paper; ..., delayed motor development, speech delay; no autism spectrum disorder; no ptosis; no down slanting palpebral fissures; no arched eyebrows; short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; inner ear malformation; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; bicuspid aoritc valve, ventricular septal defect; no limb anomalies
Inheritance Isolated (sporadic)
Age/Examination 6y (6 years)
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 2024-02-08 09:26:31 +01:00 (CET)
Date last edited N/A

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