otopalatodigital syndrome type 1

An X-linked semidominant condition (OMIM:311300) in which affected males have generalised skeletal dysplasia, mild mental retardation, hearing loss due to malformations of the ossicles, cleft palate, and typical facial anomalies which are milder than those of otopalatodigital syndrome type 2. Female carriers have variable (usually milder) expression of a similar phenotypic spectrum.
Molecular pathology
Defects in FLNA, which encodes filamin A, cause otopalatodigital syndrome type 1.

单词	otopalatodigital syndrome type 1
释义	otopalatodigital syndrome type 1 otopalatodigital syndrome type 1 An X-linked semidominant condition (OMIM:311300) in which affected males have generalised skeletal dysplasia, mild mental retardation, hearing loss due to malformations of the ossicles, cleft palate, and typical facial anomalies which are milder than those of otopalatodigital syndrome type 2. Female carriers have variable (usually milder) expression of a similar phenotypic spectrum. Molecular pathology Defects in FLNA, which encodes filamin A, cause otopalatodigital syndrome type 1.
随便看	bromodomain and wd-repeat-containing protein 2 bromodomain and wd repeat domain containing 1 bromodomain and wd-repeat domain containing 21 bromodomain-containing protein, 140 kd bromodomain phd finger transcription factor bromodomain protein of 75 kda bromoethane bromoethane sulfonic acid bromofenoxim bromofluorobenzene bromofluoroform bromoform bromogelatin bromography bromohidrosis bromohydrocarbon bromohyperhidrosis bromohyperidrosis bromoiodism bromoiodized bromol bromomenorrhea bromomethane cdepa cdepl