Poretti-Boltshauser syndrome (PTBHS) is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02464 Poretti-Boltshauser syndrome
Poretti A, Hausler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E
Title
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
