Neurology · Neurology / Pediatric neurology; Neurogenetics
Poretti–Boltshauser syndrome
also: Poretti–Boltshauser syndrome
Cerebellar dysplasia with cysts, ataxia and oculomotor apraxia.
- Specialty
- Neurology
- Subspecialty
- Neurology / Pediatric neurology; Neurogenetics
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital onset
- Gene(s) involved
- LAMA1
- Alternative names & eponyms
- Poretti–Boltshauser syndrome
Etiology & mechanism
LAMA1 mutations.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Poretti–Boltshauser 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
3 shared
Joubert syndrome
ataxia, developmental delay, molar tooth sign
2 shared
Cohen syndrome
intellectual disability, myopia
2 shared
Dandy–Walker malformation
ataxia, developmental delay
2 shared
EAST syndrome
ataxia, intellectual disability
2 shared
Glucose transporter type 1 deficiency syndrome
ataxia, developmental delay
2 shared
NARP syndrome
ataxia, developmental delay
2 shared
Triple H syndrome
ataxia, developmental delay
1 shared
Abetalipoproteinemia
ataxia
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
Shares genes with
None.
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