Phenotype #0000346973

Individual ID 00458538
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDHBA
Phenotype details see paper; ..., birth-OFC 34.2cm (SD-0.8); weight 23kg (SD-2.3), height 123cm (SD-2.5), 45.5cm (SD-5.6); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; EEG abnormal; reduced central tone; decreased peripheral tone; normal tendon reflexes
Inheritance Familial, autosomal recessive
Age/Examination 10y (10 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 2024-12-16 23:21:23 +01:00 (CET)
Date last edited 2024-12-18 16:27:17 +01:00 (CET)

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