Phenotype #0000269314

Individual ID 00374103
Associated disease ?
Diagnosis/Initial multiple congenital abnormalities
Diagnosis/Definite -
Phenotype details 27w-fetus, ultrasound intrauterine growth retardation, shortened long bones, corpus callosum agenesis, cerebellar hypoplasia; autopsy Cutis laxa, corpus callosum agenesis, mineralisation delay; Corpus callosum agenesis and gyration delay previously undescribed
Inheritance Familial, autosomal recessive
Age/Examination <0d
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-05-23 14:38:19 +02:00 (CEST)
Date last edited N/A

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