Phenotype #0000342141

Individual ID 00453478
Associated disease -
Phenotype details The patient is a 6 years and 8 months old boy with global developmental delay and generalized hypotonia. Seizures started at two months of age. Currently, at 7 years of age, he has significant motor limitations, unable to lift his head, sit independently, walk, or speak. Neurological examination shows poor visual tracking and response to sound. Brain MRI shows abnormally wide cerebral gyri with thickening of the cerebral cortex.
Diagnosis/Initial mental retardation
Inheritance Isolated (sporadic)
Diagnosis/Definite Lissencephaly 1
Age/Examination -
Age/Diagnosis 07y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Xiaomei Luo
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Xiaomei Luo
Date created 2024-09-05 12:06:47 +02:00 (CEST)
Date last edited 2024-09-05 19:23:03 +02:00 (CEST)

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