Phenotype #0000345807

Individual ID 00457344
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDLBF
Phenotype details see paper; ..., no motor delay; intellectual disability; no regression of developmental milestones; no ADHD; repetitive behavior; obsessive behavior; no aggressive behavior; no self-injury behavior; MRI brain normal; no seizures; no epilepsy; no sleep disturbances; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia
Inheritance Isolated (sporadic)
Age/Examination 9y (9 years)
Age/Diagnosis 9y
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 2024-11-08 11:01:45 +01:00 (CET)
Date last edited N/A

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