From: MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
Individual | Age | Mental handicap | Minor anomalies | Behavior | MRI/CT scan | OCF |
---|---|---|---|---|---|---|
II:5 | 67 y | Severe | Pyramidal Hypotonia; Bilateral Babinski sign; Deficit of the VII cranial nerve; Urinary incontinence; Neurosensorial hypoacusis | Demential syndrome | Normal | 52 cm |
III:10 | 40 y | Severe | Flatfoot | Nd | Cerebellar tonsils below the level of the foramen magnum; Wide subarachnoid spaces | 56 cm |
IV:13 | 22 y | Moderate | Flatfoot; Urinary incontinence | Nd | Normal | 53 cm |
IV:14 | 16 y | Moderate | Sialorrhoea; Flatfoot | Language deficit | Normal | 54 cm |