Phenotype #0000333455

Individual ID 00444203
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite BBSOAS
Phenotype details developmental delay (mild), almost normal speech abilities; behavioural disorders: attention deficit hyperactivity disorder and autism spectrum disorder; balance and coordination deficits; occasional generalized epileptic-like anomalies during light sleep, 4y8m-febrile seizures; low thyroid-stimulating hormone; hypotonia and hyperlaxity; mild facial asymmetry; thinning of corpus callosum
Inheritance Isolated (sporadic)
Age/Examination -
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 2023-12-20 21:37:03 +01:00 (CET)
Date last edited N/A

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