NDDVD - Neurodegenerative Diseases Variation Database
IGHMBP2 (immunoglobulin mu binding protein 2)
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Curator:
Y Yang
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Phenotype #0000000010
Individual ID
00006144
Associated disease
ALXDRD
Phenotype details
We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared.
Inheritance
-
Owner name
XY Liu
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
XY Liu
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