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| Mackenzie's Mission_Reproductive Carrier Screening v0.104 | ACY1 |
Zornitza Stark gene: ACY1 was added gene: ACY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 16274666; 16465618; 17562838; 24117009 Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924 Review for gene: ACY1 was set to GREEN Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features. Sources: Expert Review |
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