The clinical features of autosomal recessive mutations in ELOVL4, per organ system, include:
Central Nervous System
- Hypertonia
- Spastic quadriplegia
- Seizures
- Psychomotor retardation
- Profound intellectual disability
- Immobility
- Brain atrophy (reported in one patient)
- Delayed myelination (reported in one patient)
Head and Neck
- Microcephaly (reported in one patient)
- High myopia (reported in one patient)
- Abnormal visual evoked potentials (reported in one patient)
Skin and Nails
- Ichthyosis
- Dry and scaly skin
- Erythema
- Collodion membrane at birth (reported in one patient)
Other(s)
- Profound developmental delay
- Poor growth and failure to thrive
- Contractures
- 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)
Autosomal dominant heterozygous mutations in ELOVL4 may cause the clinical features of Stargardt Macular Degeneration type 3, which is characterized by macular flecks, central macular atrophy, progressive macular dystrophy, and decreased visual acuity. Central visual loss usually happens between 5 and 23 years of age.
Spinocerebellar ataxia type 34 has been reported in some cases of autosomal dominant ELOVL4 mutations, and the clinical features include:
- Spinocerebellar ataxia
- Spasticity
- Dysarthria
- Dysdiadochokinesia
- Pontine and cerebellar atrophy
- Pontine midline hyperintensity
- Hyperreflexia or hyporeflexia
- Peripheral neuropathy
- Intention tremor
- Nystagmus
- Supranuclear gaze palsy
- Bladder dysfunction
- Skin lesions (reported in one family): papulosquamous erythematous plaques and erythrokeratodermia, with skin histology showing hyperkeratosis, papillomatosis, and hypergranulation with vacuolization.