ABCD syndrome (ABCDS) is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H00823 ABCD syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00823 ABCD syndrome
Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M
Title
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
