Synonym(s): - Austin type juvenile sulfatidosis - MSD - Mucosulfatidosis
Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SUMF1	Q8NBK3	607939

- Autosomal recessive inheritance
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Mucopolysacchariduria
- Nerve conduction abnormality
- Psychic / psychomotor regression / dementia / intellectual decline
- Splenomegaly

- Anteverted nares / nostrils
- Broad / bifid big toe
- Broad / bifid thumb
- Cataract / lens opacification
- Coarse face
- Coarse / thick hair
- Corneal clouding / opacity / vascularisation
- Depressed nasal bridge
- Early death / lethality
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Philtrum flat / large / featureless / absent cupidon bows
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Storage liver disease
- Thick / bushy eyebrows

- Microcephaly