hereditary disease Huppke-Brendel syndrome https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/6765#issuecomment-1797800311 https://www.malacards.org/card/huppke_brendel_syndrome lethal neurodegenerative disorder due to copper transport defect congenital cataracts, hearing loss, and neurodegeneration Huppke-Brendel syndrome acetyl CoA transporter deficiency GARD:0017365 OMIM:614482 MEDGEN:1659966 Orphanet:300313 CCHLND UMLS:C4751114 MONDO:0013772 congenital cataract-deafness-severe developmental delay syndrome obsolete_congenital cataract-hearing loss-severe developmental delay syndrome