Phenotype #0000332790

Individual ID 00443448
Associated disease ?
Diagnosis/Initial lissencephaly, megalencephaly
Diagnosis/Definite MRT34
Phenotype details see paper, ..., height 146.7 cm (-2SD), weight 40.1 kg (-1.55SD), OFC 54.5 cm (+0.1SD), relative megalencephaly; mild-moderate intellectual disability; 18m-generalized nonconvulsive seizures, well controlled
Inheritance Familial, autosomal recessive
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2023-11-27 09:52:50 +01:00 (CET)
Date last edited N/A

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