Recessive syndrome of ataxia, cataracts and myopathy.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurogenetics
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital cataracts in infancy, ataxia in early childhood
- Gene(s) involved
- SIL1
- Alternative names & eponyms
- Marinesco–Sjögren syndrome
Etiology & mechanism
SIL1 mutations.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Marinesco–Sjögren syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
4 shared
Lowe syndrome
congenital cataracts, hypotonia, intellectual disability, short stature
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability, short stature
2 shared
Coffin–Lowry syndrome
intellectual disability, short stature
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Cohen syndrome
hypotonia, intellectual disability
2 shared
Costello syndrome
intellectual disability, short stature
2 shared
Cri du chat syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Down syndrome
hypotonia, intellectual disability
Shares genes with
None.
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