Phenotype #0000242401

Individual ID 00320427
Associated disease ?
Diagnosis/Initial global developmental delay
Diagnosis/Definite -
Phenotype details atrial septal defect, ventricular septal defect; facial dysmorphism; global developmental delay; microcephaly; short stature; abnormal white matter, brain atrophy; cataract; no genitourinary abnormalities
Inheritance Familial, autosomal recessive
Age/Examination 8y (8 years)
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 2020-11-29 14:31:42 +01:00 (CET)
Date last edited N/A

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