Synonym(s): - Cherry-red spot-myoclonus syndrome - Lipomucopolysaccharidosis - Normomorphic sialidosis - Syndrome "cherry-red spot-myoclonus"
Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
NEU1	Q99519	608272

- Abnormal gait
- Aminoacid metabolism anomalies / aminoaciduria
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Broad nasal root
- Coarse face
- Corneal clouding / opacity / vascularisation
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lipidosis / sulfatidosis
- Macular pigmentary anomaly / cherry-red spot
- Mild visual loss / impaired visual acuity
- Movement disorder
- Nystagmus
- Pectus carinatum
- Retinopathy
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly
- Storage liver disease
- Thick lips
- Vascular anomalies of skin / mucosae
- Visual loss / blindness / amblyopia

- Abnormal vertebral size / shape
- Central neuropathy
- EEG anomalies
- Frontal bossing / prominent forehead
- Herniae
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Nerve conduction abnormality
- Tremor

- Cataract / lens opacification
- Kyphosis