Phenotype #0000323991

Individual ID 00433548
Associated disease microcephaly
Diagnosis/Initial microcephaly
Diagnosis/Definite MCPH5
Phenotype details microcephaly; sociable, low frustration tolerance, hyperactive, occasional self-injurious behavior, 18m-walk; talks in short meaningful sentences, can name family members/objects; partly take care
of self, no reading or writing skills; sloping forehead, narrow bifrontal diameter
Inheritance Familial, autosomal recessive
Age/Examination 08y (8 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 2023-03-11 20:12:32 +01:00 (CET)
Date last edited N/A

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