Psychology Wiki

X-linked alpha thalassemia mental retardation syndrome

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·

X-linked alpha thalassemia mental retardation syndrome
Classification and external resources
Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies.
OMIM 301040

Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome,[1] is a condition caused by a mutated gene. Females with this mutated gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately mentally retarded and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip.[2]

It is associated with ATRX.[3]

See alsoEdit


  1. OMIM 301040
  2. Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam (2001). Syndromes of the Head and Neck , Oxford University Press.
  3. Medina CF, Mazerolle C, Wang Y, et al. (March 2009). Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome. Hum. Mol. Genet. 18 (5): 966–77.

External linksEdit


Ad blocker interference detected!

Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki