DISEASES

Disease-gene associations mined from literature

Human genes for NESCAV syndrome

NESCAV syndrome [DOID:0070039]

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3.

Synonyms:  NESCAV syndrome,  DOID:0070039,  NESCAV disease,  NESCAV disorder,  NESCAV syndromes ...