Phenotype #0000337071

Individual ID 00447875
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDBAF
Phenotype details see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, 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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