Phenotype #0000346969

Individual ID 00458534
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDHBA
Phenotype details see paper; ..., OFC 48.5cm (SD-3.4); severe intellectual disability; delayed gross motor development, 5y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; inverted nipples
Inheritance Familial, autosomal recessive
Age/Examination 07y08m (7 years, 8 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 2024-12-16 23:21:23 +01:00 (CET)
Date last edited 2024-12-18 16:26:24 +01:00 (CET)

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