Phenotype #0000324339

Individual ID 00433961
Associated disease microcephaly
Diagnosis/Initial microcephaly
Diagnosis/Definite MCPH5
Phenotype details microcephaly, OFC SD-7 to -8; epileptic seizure in two patients, poor self caring skills, not able to speak complete sentences, severe intellectual disability, normal motor skills, normal height, normal hearing and vision
Inheritance Familial, autosomal recessive
Age/Examination -
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 11:51:24 +01:00 (CET)
Date last edited 2023-03-16 12:59:56 +01:00 (CET)

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