Phenotype #0000219686

Individual ID 00285854
Associated disease CRS
Phenotype details see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)
Diagnosis/Initial craniosynostosis
Inheritance Familial, autosomal dominant
Diagnosis/Definite BAIDCS
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-02-08 14:04:21 +01:00 (CET)
Date last edited N/A

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