Phenotype #0000323881

Individual ID 00433360
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, young onset diabetes, short stature; OFC (SD-4), length (SD-3); 10y-generalized, absences, treatment VPA; intellectual disability; MRI normal; OFC (SD-4), length (SD-3); 10y-generalized, absences, treatment VPA; intellectual disability; MRI normal
Inheritance Familial, autosomal recessive
Age/Examination 26y (26 years)
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 2023-03-06 14:23:39 +01:00 (CET)
Date last edited N/A

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