Abnormal axial skeleton morphology, Abnormal CNS myelination, Abnormal electroretinogram, Abnormal emotion/affect behavior, Abnormality of calvarial morphology, Abnormality of central motor function, Abnormality of eye movement, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the breast, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the ear, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the face, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the inner ear, Abnormality of the liver, Abnormality of the musculature, Abnormality of the nasal bridge, Abnormality of the nervous system, Abnormality of the nipple, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the rib cage, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the thorax, Abnormal location of ears, Abnormal muscle tone, Abnormal shape of the frontal region, Abolished electroretinogram (ERG), Age of onset, All, Autosomal recessive inheritance, Babinski sign, Behavioural/Psychiatric Abnormality, Bilateral sensorineural hearing impairment, Brachycephaly, Cognitive impairment, Decreased electroretinogram (ERG) amplitude, Diffuse hepatic steatosis, Dysphagia, Dystonia, Frontal bossing, Functional abnormality of the inner ear, Hearing abnormality, Hearing impairment, Hepatic steatosis, Hepatomegaly, Hypertelorism, Hypertonia, Impaired social interactions, Infantile onset, Intellectual disability, Intellectual disability, progressive, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Mental deterioration, Mode of inheritance, Muscular hypotonia, Neonatal hypotonia, No social interaction, Nystagmus, Onset, Onset and clinical course, Optic atrophy, Phenotypic abnormality, Pigmentary retinopathy, Progressive neurologic deterioration, Retinal degeneration, Seizures, Sensorineural hearing impairment, Strabismus, Tapetoretinal degeneration, Visceromegaly, Wide nasal bridge.