Synonym(s): (no synonyms)
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Diseases of the nervous system - 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
SIL1	Q9H173	608005

- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Elocution disorders / dysarthria / dysphonia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Myopathy
- Short stature / dwarfism / nanism
- Strabismus / squint

- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperkinesia / dyskinesia
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Nystagmus
- Pectus carinatum
- Scoliosis
- Short hand / brachydactyly
- Talipes-valgus

- Areflexia / hyporeflexia
- Microcephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy