Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Brewer et al.1996Dev Med Child Neurol359-36338X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family 8641541

Mutations mentioned in reference

No mutations found.

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 4 c.2374delinsGG p.Asn792GlyfsX26Exon 18 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia Death < 1 yr: 4/4