Table 2

X linked mental retardation disorders associated with neurological features and early death

NameMIM/refLocus
Adrenomyodystrophy300270—
ALD *300100Xq282-151
Arthrogryposis *301830—
Arts301835Xq21.33−q24
Baar-Gabriel312890—
Bertini/26Xp22.33−pter
Cantu308830—
Gustavson *309555Xq24−q26
Holmes-Gang *309530—
HSAS *308840Xq282-151
Hunter *309900Xq27.3−q282-151
Juberg-Marsidi/ATR-X *309590Xq13.32-151
Lenz *309800—
Lowe *309000Xq25−q262-151
Lesch-Nyhan *308000Xq26.12-151
Menkes *309400Xq13.32-151
Paine-Seemanova 311400—
PMD *312080Xq21−q222-151
Pyruvate dehydrogenase deficiency *312170Xp222-151
Schmidley301790—
VACTERL with hydrocephalus314390—
Wittwer/27Xp22.3−pter2-152

  • ALD = adrenoleucodystrophy.

  • PMD= Pelizaeus-Merzbacher disease.

  • ATR-X= α thalassaemia retardation X linked.

  • HSAS= hydrocephalus owing to stenosis of the aqueduct of Sylvius.

  • ↵2-151 = gene cloned.

  • ↵2-152 = tentative assignment.