Phenotype #0000345816

Individual ID 00457353
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDLBF
Phenotype details see paper; ..., birth 32w+6; no Infant feeding difficulties; no failure to thrive; speech problems; no motor delay; intellectual disability; no regression of developmental milestones; no anxiety; ADHD; no repetitive behavior; no obsessive behavior; aggressive behavior; no self-injury behavior; macrocephaly, OFC 52cm (+1 SD); -; MRI brain normal; EEG brain normal; febrile seizures, 18m-first seizure; no sleep disturbances; oppositional and provocation; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia; epicanthus; recurrent urinary tract infections; asthma; 3y-huge gain of weight
Inheritance Isolated (sporadic)
Age/Examination 4y6m (4 years, 6 months)
Age/Diagnosis 3y6m
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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