X-linked hydrocephalus syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0265216

JABL: Sex-linked hydrocephalus, aqueductal stenosis, mental deficiency, and flexion deformities and spasticity of the extremities. HSAS, MASA (mental retardation, adducted thumbs, shuffling gait, and aphasia), and complicated paraplegia (SPG1) share many common characteristics. Later studies reported HSAS patients with hydrocephalus but without aqueductal stenosis.

Download in:

View as