Phenotype #0000324380

Individual ID 00434001
Associated disease microcephaly
Diagnosis/Initial microcephaly
Diagnosis/Definite MCPH5
Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-7.6), weight (SD-1.7); OFC (SD-9.5), length (SD-1.2), weight (SD-2); no epilepsy; MRI brain 0.6y-gyral simplification; hypertonia, hyperpigmentation spot
Inheritance Familial, autosomal recessive
Age/Examination 0.6y
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 21:41:13 +01:00 (CET)
Date last edited N/A

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