※ PTMD 2.0 database Online Browse Options

Browse result for Acrocallosal syndrome

※ introduction

    Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.

Reference
Wiki: Acrocallosal syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07228Q2M1P537465
KIF7
Kinesin-like protein KIF7
Homo sapiens