Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
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DOI: 10.1016/j.braindev.2021.04.011
Abstract: BACKGROUND Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable.… read more here.
Keywords: head titubation; irritability; joubert syndrome; homozygous nphp1 ... See more keywords