Clinical Characteristics

If inherited in an autosomal recessive manner, mutations in ELOVL4 may manifest with the following signs and symptoms:

  • Dry and scaly skin
  • Increased muscle tone
  • Stiffness of all four limbs (spastic quadriplegia)
  • Seizures
  • Slowing-down of thought and a reduction of physical movements (psychomotor retardation)
  • Profound developmental delay
  • Profound intellectual disability
  • Immobility
  • Brain atrophy (reported in one patient)
  • Smaller-than-normal head (microcephaly) (reported in one patient)
  • Severe near-sightedness (reported in one patient)
  • Poor growth
  • Protrusion of intestinal or fatty tissue through a weakness in the abdominal wall (Inguinal hernia)
  • Asthma (reported in one patient)
  • Small testicles (reported in one patient)
  • Gingivitis (reported in one patient)
  • Loss of teeth (reported in one patient)

The clinical feature autosomal dominant mutations in ELOVL4 may cause is Stargardt Macular Degeneration type 3, which is characterized by spots in the macula of the eye, atrophy of the macula of the eye, and decreased visual acuity, eventually leading to visual loss.

Spinocerebellar ataxia type 34 has been reported in some cases of autosomal dominant ELOVL4 mutations. The features of this disease mainly include:

  • Slowly progressive incoordination of gait, usually associated with poor coordination of the hands, speech, and eye movements
  • Skin lesions (in some patients)