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Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father, as well as new mutations in one of the germ cells that gave rise to the fetus. Male germ cells mutate at a much faster rate than female germ cells, and as the father ages, the DNA of the germ cells mutates quickly.
Müllerian agenesis (including absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhoea. [2] Because most of the vagina does not develop from the Müllerian duct, instead developing from the urogenital sinus, along with the bladder and urethra, it is present even when the Müllerian duct is completely absent.
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), [3] and formerly mental retardation (in the United States), [4] [5] [6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood.
The infant is at risk, because angry mothers have reached down to haul the baby out, or made a dangerous assault on the new-born; for example, a 40-year-old mother, at the end of her 1st pregnancy, kicked away the midwife, tore out the infant, and killed it by striking its head against the bedpost. [36]
The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. At the time Dr. Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest autosomal or x-linked recessive inheritance or ...
Icthyosis-intellectual deficit-dwarfism-renal impairment, Ichthyosis-mental retardation-dwarfism-renal impairment, [1] Passwell-Goodman-Siprkowski syndrome [2] Specialty: Medical genetics: Symptoms: ichthyosis from birth, intellectual disabilities, abnormally short stature, and renal impairments: Usual onset: Birth: Duration: Life-long: Causes
A girl with Rett Syndrome mouthing her hands, a common behavior with Rett Syndrome. Prior to the discovery of a genetic cause, Rett syndrome had been designated as a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM), together with the autism spectrum disorders.