Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Neu-Laxova syndrome
MONDO:0000179
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508
abdominal obesity-metabolic syndrome
MONDO:0000816
fibrogenesis imperfecta ossium
MONDO:0000849
Fanconi renotubular syndrome
MONDO:0001083