Phenotype #0000337176

Individual ID 00447987
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite WSKA
Phenotype details see paper; ..., speech delay, motor apraxia, individualized education program; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; mildly cupped ears; no craniosynostosis, no metopic ridging; no hypotonia; no hypertelorism; normal MRI; no congenital heart disease; no limb anomalies
Inheritance Unknown
Age/Examination 8y (8 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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