X-linked mental retardation 3

Common Name(s)

X-linked mental retardation 3

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by {8:Yu et al., 2013}).
 

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Condition Specific Organizations

Following organizations serve the condition "X-linked mental retardation 3" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked mental retardation 3" returned 3 free, full-text research articles on human participants. First 3 results:

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
 

Author(s): B C Gohlke, K Haug, M Fukami, W Friedl, M Noeker, G A Rappold, F Haverkamp

Journal: J. Med. Genet.. 2000 Aug;37(8):600-2.

 

We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and ...

Last Updated: 12 Sep 2000

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A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.
 

Author(s): M Fukami, S Kirsch, S Schiller, A Richter, V Benes, B Franco, K Muroya, E Rao, S Merker, B Niesler, A Ballabio, W Ansorge, T Ogata, G A Rappold

Journal: Am. J. Hum. Genet.. 2000 Sep;67(3):563-73.

 

X-linked nonspecific mental retardation (MRX) has a frequency of 0.15% in the male population and is caused by defects in several different genes on the human X chromosome. Genotype-phenotype correlations in male patients with a partial nullisomy of the X chromosome have suggested ...

Last Updated: 19 Sep 2000

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Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
 

Author(s): L Kozák, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, G Neri

Journal: J. Med. Genet.. 1993 Oct;30(10):866-9.

 

Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had ...

Last Updated: 20 Dec 1993

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Reviews from the PubMed Database

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The terms "X-linked mental retardation 3" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
 

Status: Recruiting

Condition Summary: Childhood Cerebral Adrenoleukodystrophy; (X-linked Adrenoleukodystrophy Cerebral Childhood)

 

Last Updated: 18 Jul 2014

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