Sanjad-Sakati syndrome

hypoparathyroidism-retardation-dysmorphism syndrome

An autosomal recessive condition (OMIM:241410) characterised by congenital hypoparathyroidism, growth and mental retardation and seizures, which presents in children of consanguineous parents in the Middle East.
Molecular pathology
Caused by defects of TBCE, which encodes cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded.

Sanjad-Sakati syndrome

DRV-1249492934 (san′jad″să-kot′ē) [Sami A. Sanjad, contemporary Lebanese-born U.S. pediatrician; Nadia Awni Sakati, Syrian physician, b. 1938] A rare autosomal recessive disorder characterized by hypoparathyroidism, intrauterine growth retardation, and facial or cranial developmental abnormalities.

Sakati,

Nadia, 20th century Saudi Arabian pediatrician. Sakati syndrome - Synonym(s): Sakati-Nyhan syndromeSakati-Nyhan syndrome - rare syndrome, usually sporadic, featuring craniofacial defects, abnormal limbs, congenital heart defects, patchy alopecia with atrophic skin above the ears, and linear scarlike lesions in the submental areas. Synonym(s): Sakati-Nyhan-Tisdale syndrome; Sakati-syndromeSakati-Nyhan-Tisdale syndrome - Synonym(s): Sakati-Nyhan syndromeSanjad-Sakati syndrome - see under Sanjad

Sanjad,

S.A., Sanjad-Sakati syndrome - an autosomal recessive disorder characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features.

单词	sanjad-sakati syndrome
释义	Sanjad-Sakati syndrome hypoparathyroidism-retardation-dysmorphism syndrome An autosomal recessive condition (OMIM:241410) characterised by congenital hypoparathyroidism, growth and mental retardation and seizures, which presents in children of consanguineous parents in the Middle East. Molecular pathology Caused by defects of TBCE, which encodes cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded. Sanjad-Sakati syndrome DRV-1249492934 (san′jad″să-kot′ē) [Sami A. Sanjad, contemporary Lebanese-born U.S. pediatrician; Nadia Awni Sakati, Syrian physician, b. 1938] A rare autosomal recessive disorder characterized by hypoparathyroidism, intrauterine growth retardation, and facial or cranial developmental abnormalities. Sakati, Nadia, 20th century Saudi Arabian pediatrician. Sakati syndrome - Synonym(s): Sakati-Nyhan syndromeSakati-Nyhan syndrome - rare syndrome, usually sporadic, featuring craniofacial defects, abnormal limbs, congenital heart defects, patchy alopecia with atrophic skin above the ears, and linear scarlike lesions in the submental areas. Synonym(s): Sakati-Nyhan-Tisdale syndrome; Sakati-syndromeSakati-Nyhan-Tisdale syndrome - Synonym(s): Sakati-Nyhan syndromeSanjad-Sakati syndrome - see under Sanjad Sanjad, S.A., Sanjad-Sakati syndrome - an autosomal recessive disorder characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features.
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