Phenotype #0000324306

Individual ID 00433928
Associated disease microcephaly
Diagnosis/Initial microcephaly
Diagnosis/Definite MCPH5
Phenotype details normal birth weight; weight SD-0.7, height SD-1.4, microcephaly OFC SD-7.6; moderate intellectual disability DQ/IQ45; speech is not understandable, cannot do self-caremirror image hand movements; simplified gyral pattern
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 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 2023-03-16 10:19:22 +01:00 (CET)
Date last edited 2023-03-16 14:32:35 +01:00 (CET)

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