Mutations in this gene are associated with anonychia congenital.

Anonychia at funet.

Clinically it is manifest by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails.

Although several genetic disorders exist which can cause anonychia and onychodystrophy, such disorders often cause other anomalies such as deafness, mental retardation, and defects of the hair, eyes, and teeth.

Congenital onychodysplasia of the index fingers is defined by the presence of the condition at birth, either unilateral or bilateral index finger involvement, variable distortion of the nail or lunula, and polyonychia, micronychia, anonychia, hemionychogryphosis, or malalignment.

Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers.