Huppke-Brendel syndrome
MONDO:0003847
hereditary disease
is_a
CCHLND
related
Huppke-Brendel syndrome
exact
acetyl CoA transporter deficiency
exact
congenital cataract-deafness-severe developmental delay syndrome
exact
congenital cataracts, hearing loss, and neurodegeneration
exact
lethal neurodegenerative disorder due to copper transport defect
exact
SPBC21B10.09