Phenotype #0000257144

Individual ID 00361753
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; sleep disturbance; seizures; no feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, enlarged ventricles
Inheritance Isolated (sporadic)
Age/Examination 8y (8 years)
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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