Phenotype #0000337067

Individual ID 00447871
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDBAF
Phenotype details see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; seizures; musculoskeletal features; no dyspraxia; genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, polymicrogyria, dysgyria, no grey matter heterotopia, no cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly
Inheritance Isolated (sporadic)
Age/Examination -
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 2024-01-29 17:14:31 +01:00 (CET)
Date last edited N/A

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