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ENHuppke-Brendel Syndrome (HPBDS)
Alias:
Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Cchlnd
Congenital Cataract-Deafness-Severe Developmental Delay Syndrome
Lethal Neurodegenerative Disorder Due to Copper Transport Defect
Cataracts, Congenital, Hearing Loss, and Neurodegeneration
Acetyl-Coa Transporter Deficiency
Hpbds
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Huppke-Brendel Syndrome, also known as congenital cataract-hearing loss-severe developmental delay syndrome, is related to wilson disease and aceruloplasminemia. An important gene associated with Huppke-Brendel Syndrome is SLC33A1 (Solute Carrier Family 33 Member 1). Affiliated tissues include eye and brain, and related phenotypes are hearing impairment and absent speech
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MALACARDS
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