Phenotype #0000340199

Individual ID 00451462
Associated disease LIS1
Phenotype details Cerebral cortical atrophy, hypsarrhythmia, moderate intellectual disability
Diagnosis/Initial Hyperbeta-alaninemia
Inheritance Familial, autosomal dominant
Diagnosis/Definite Lissencephaly 1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2024-06-06 23:19:55 +02:00 (CEST)
Date last edited 2024-06-18 16:16:39 +02:00 (CEST)

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