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Woolly hair autosomal recessive. Autosomal recessive woolly hair. Autosomal recessive pattern is the inheritance manner of this condition. Causes. Mutations in the LIPH, LPAR6 or KRT2 genes. Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair. [1]
A chart of inheritance of autosomal recessive genes. Voting period is over. Please don't add any new votes. Voting period ends on 5 Mar 2013 at 00:20:34 (UTC). Original – A chart showing the chain of inheritence for a recessive gene including the distinction between a non-affected carrier offspring and an affected offspring.
Deaths. –. Autosomal recessive isolated ectopia lentis is a rare hereditary disorder which is characterized by ectopia lentis (that is; a condition that displaces the position of the eye's lens) [2] that is present in both eyes with no other significant abnormalities. [3] It is caused by mutations in the ADAMTSL4 gene, located in chromosome 1.
COACH syndrome, also known as Joubert syndrome with hepatic defect, [4] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: c erebellar vermis aplasia, o ligophrenia, congenital a taxia, c oloboma and h epatic fibrosis. The condition is associated with moderate intellectual disability. [1]
Alwadei syndrome or autosomal recessive mental retardation-61 (MRT61) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable abnormal facial features. [1] [2] [3] Severe patients may develop refractory seizures and have brain abnormalities, including ...
CARASIL is an autosomal recessive disease, meaning that both parents must be a carrier for the allele in order for the disease to be passed on to the child. As with other autosomal recessive diseases, the likelihood of receiving a recessive allele from both parents increases if the parents are closely related to each other ( consanguineous ).
