Skip to main content

Table 3 Summary of clinical data observed in other ARXdup24 families

From: MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions

Families Mental handicap Minor anomalies Behavior MRI/CT scan References
MRX54 Moderate to profound Long face, thin lips, large ears, epilepsy Aggressive Normal [14]
P73-MRX Moderate No Language deficit Normal [14]
P49-MRX Moderate Dystonia Language deficit, hyperkinesia Normal [14]
MRX36 Moderate to severe No Normal Normal [14]
MRX43 Moderate to severe Obesity, large head, epilepsy Normal ND [14]
MRX76 Moderate Wolff-Parkinson- White Depressive and psychotic features ND [14]
P34-MRX Severe General developmental delays, dystonic hand movements Language deficit Normal [6]
P104-MRX Severe No No Normal [6]
P106-MRX Moderate No Severe language development delay Normal [6]
T37-MRX Severe Long chin and deep-set eyes, strabismus, neonatal hypotonia Learning and walking difficulties Normal [6]
ARX family Severe Hypertelorism, broad nasal root, cleft upper lip, growth hormone deficiency Psychomotor delay Transsphenoidal encephalocele and agenesis of corpus callosum (ACC) and hypopituitarism [27]
  1. ND = not determined.