Hoxha-Aliu syndrome (HXAL) is an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities, and cardiac malformation. Mutations in ERI1 have been reported to be associated with this syndrome. ERI1 is an evolutionary conserved 3'-5' exonuclease with an important function in multiple RNA processing pathways.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02965 Hoxha-Aliu syndrome
