OnlineIMD
AP3D1 deficiency
Type
Disease
External link(s)
IEMbase
Gene
AP3D1
/ adaptor related protein complex 3 delta 1 subunit
19p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Adaptor protein complex 3 subunit delta-1
Disease group(s)
19.6.3 Disorders of the adaptor protein complexes
Child entries
Hermansky-Pudlak syndrome type 10
X-linked recessive ocular albinism
Ocular albinism with late-onset sensorineural deafness