Phenotype #0000257150

Individual ID 00361759
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; no sleep disturbance; no seizures; feeding difficulties; strabismus; no joint hypermobility; cerebral MRI delayed myelination, dilated ventricles, corpus callosal abnormalities
Inheritance Isolated (sporadic)
Age/Examination 4y8m (4 years, 8 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 2021-04-09 09:19:14 +02:00 (CEST)
Date last edited N/A

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