Phenotype #0000342140

Individual ID	00453477
Associated disease	-
Phenotype details	He presents with global developmental delay and regression. His birth history was not remarkable. Motor regression occurred at 7-8 months, and he exhibits no speech, hypotonia, and self-injurious behavior. Additionally, he shows reduced pain sensation and an inability to comprehend language. Brain MRI revealed cerebellar atrophy, similar to his older sister. Progressive regression occurred after 1 year, with developmental delay, inability to sit, roll over, or move limbs freely, and hypotonia. He has poor chewing ability, limited speech expression, and a poor response to rehabilitation. Unfortunately, he deceased at 5 years and 6 months. Brain MRI showed cerebellar atrophy and abnormal signals in the bilateral dentate and globus pallidus.
Diagnosis/Initial	mental retardation
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Neurodegeneration with brain iron accumulation 2B
Age/Examination	02y01m (2 years, 1 month)
Age/Diagnosis	03y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Xiaomei Luo
Database submission license
Created by	Xiaomei Luo
Date created	2024-09-05 11:42:49 +02:00 (CEST)
Date last edited	2024-09-05 19:28:18 +02:00 (CEST)

Global Variome shared LOVD