Poretti–Boltshauser syndrome

Also known as: Poretti–Boltshauser syndrome

Cerebellar dysplasia with cysts, ataxia and oculomotor apraxia.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital onset
Gene(s) involved: LAMA1

Etiology & mechanism

LAMA1 mutations.

Gene(s) involved (1)

LAMA1

Symptoms & signs (6)

ataxiadevelopmental delayintellectual disabilitymolar tooth signmyopiaoculomotor apraxia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.