Phenotype #0000356346

Individual ID 00471539
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); no speech delay (-HP:0000750); learning or intellectual disability (HP:0001249); normal social behaviour (-HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999), periorbital fullness, full lips,low set ears; congenital heart defect (HP:0001627); no seizures (-HP:0001250)
Inheritance Isolated (sporadic)
Age/Examination 8y9m (8 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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