Phenotype #0000356347

Individual ID 00471540
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., severe global developmental dealy (HP:0001263); gross motor delay (HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), bulbous nose,everted lower lip,large ears, sagging cheeks; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)
Inheritance Isolated (sporadic)
Age/Examination 5y9m (5 years, 9 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 2025-12-27 15:29:46 +01:00 (CET)
Date last edited N/A

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