Phenotype #0000345813

Individual ID 00457350
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDLBF
Phenotype details see paper; ..., birth 38w; Infant feeding difficulties; stuttering speech; no motor delay; no intellectual disability; no regression of developmental milestones; no anxiety; no ADHD; repetitive behavior; no obsessive behavior; aggressive behavior; no self-injury behavior; no macrocephaly, OFC 56.9 cm(91th centile); -; MRI brain normal; no seizures; no epilepsy; daytime sleepiness; no short stature; no congenital heart defects; no gastrointestinal disturbance; corrected visual impairment; no hearing impairment; respiratory problems (including chronic bronchitis); 13y-head injury
Inheritance Isolated (sporadic)
Age/Examination 15y4m (15 years, 4 months)
Age/Diagnosis 15y4m
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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