Reference details

Willems et al.1987Am. J. Med. Genet.921-92827X-linked hydrocephalus 3425602

Mutations mentioned in reference

No mutations found.


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 >2 c.3543-?_(*731+25) p.Gly1123ValfsX76Exon 28 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia In this family: moderate to severe MR; severe prenatal hydrocephalus to minimal dilation of the lateral ventricles.