Gillespie syndrome

Gil·les·pie syndrome

(gi-les'pē), syndrome of congenital absence of the iris, mental retardation, and cerebellar ataxia; etiology unknown.

oculodentodigital dysplasia

An extremely rare type of ectodermal dysplasia (OMIM:164200) characterised by small eyes; small, caries-prone teeth; syndactyly; and malformation of the 4th and 5th fingers. Other findings include iris atrophy, glaucoma, fine fragile hair, conductive deafness, ataxia, spastic paraplegia, bladder and bowel dysfunction.

Molecular pathology
ODD is caused by mutation of GJA1, which encodes gap junction protein connexin 43.

Gil·les·pie syn·drome

(gi-les'pē sin'drōm) Congenital absence of the iris, mental retardation, and cerebellar ataxia; possibly due to a heritable mutation.

Gillespie,

Frank D., U.S. ophthalmologist, 1927–. Gillespie syndrome - hereditary syndrome resulting in absence of the iris and other abnormalities.

单词	gillespie syndrome
释义	Gillespie syndrome Gil·les·pie syndrome (gi-les'pē), syndrome of congenital absence of the iris, mental retardation, and cerebellar ataxia; etiology unknown. oculodentodigital dysplasia An extremely rare type of ectodermal dysplasia (OMIM:164200) characterised by small eyes; small, caries-prone teeth; syndactyly; and malformation of the 4th and 5th fingers. Other findings include iris atrophy, glaucoma, fine fragile hair, conductive deafness, ataxia, spastic paraplegia, bladder and bowel dysfunction. Molecular pathology ODD is caused by mutation of GJA1, which encodes gap junction protein connexin 43. Gil·les·pie syn·drome (gi-les'pē sin'drōm) Congenital absence of the iris, mental retardation, and cerebellar ataxia; possibly due to a heritable mutation. Gillespie, Frank D., U.S. ophthalmologist, 1927–. Gillespie syndrome - hereditary syndrome resulting in absence of the iris and other abnormalities.
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