Phenotype #0000352979

Individual ID 00467825
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDSBA
Phenotype details see paper; ..., birth-40w; 14m-deceased; no failure to thrive; feeding problems; no speech; delayed gross motor development, never walked independently; delayed fine motor development; global developmental delay; 3m-onset tonic seizures, myoclonic seizures; autism; no hypotonia, severe spasticity; normal behavior; salt and pepper fundus pigmentation, nystagmus, no fixation; no hearing impairment; dysmorphic features
Inheritance Familial, autosomal recessive
Age/Examination 1y2m (1 year, 2 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 2025-10-31 17:49:51 +01:00 (CET)
Date last edited N/A

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