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To explore the genetic basis for a boy with mental retardation.
This article was published in the following journal.
Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
To explore the genetic basis for a family affected with mental retardation combined with autism.
Bartter syndrome (BS), a rare autosomal recessive disorder affecting renal tubular potassium handling, is characterized by hypokalemia, metabolic alkalosis, and renal salt wasting. In this report, we ...
Complex chromosome rearrangement (CCR) often results in patients with mental retardation, stunted growth, and multiple abnormalities. CCR carriers are at high risk of adverse pregnancy, and prenatal d...
WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It i...
X-linked hypophosphataemic rickets (XLH) is the main form of hereditary rickets caused by mutation of the PHEX gene and occurs mainly in childhood. Clinically, it causes growth retardation and bone de...
Mental retardation is a condition diagnosed before age 18 that includes below-average general intellectual function, and a lack of the skills necessary for daily living. Mental retardation...
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population. Profound ...
Self-injurious behavior is behavior in which a person hurts or harms himself. This behavior sometimes occurs in people with mental retardation or autism. This study will evaluate self-in...
With Leap Motion Controller, virtual reality exercises have been implemented more often since 2014, and this technology has benefited more from upper extremity rehabilitation In literature...
It's an interventional, prospective and monocentric pilot study concerning adult patients with autism without mental retardation. The primary outcome is to assess the effects of cathodal ...
A class of genetic disorders resulting in mental retardation that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
A condition occurring in FETUS or NEWBORN due to in utero ETHANOL exposure when mother consumed alcohol during PREGNANCY. It is characterized by a cluster of irreversible BIRTH DEFECTS including abnormalities in physical, mental, and behavior development (such as FETAL GROWTH RETARDATION; MENTAL RETARDATION; ATTENTION DEFICIT AND DISRUPTIVE BEHAVIOR DISORDERS) with varied degree of severity in an individual.
A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
A condition caused by autosomal recessive gene mutations leading to hypogenesis or absence (agenesis) or of CORPUS CALLOSUM, the band of nerve fibers joining the two CEREBRAL HEMISPHERES. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...