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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Мальф.
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Мальф.
Autosomal recessive

Cleft palate

ORPHA:2014Клин. топ
Multigenic/multifactorial, Not applicable

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

ORPHA:261190Клин. под.
Not applicable, Unknown

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

ORPHA:652514Клин. под.
Autosomal dominant

Cleft palate-large ears-small head syndrome

ORPHA:2013Мальф.

Cleft palate-lateral synechia syndrome

ORPHA:2016Мальф.
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Мальф.
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Мальф.
Autosomal recessive

Cleft velum

ORPHA:99772Морф.
Multigenic/multifactorial, Not applicable

Cleidocranial dysplasia

ORPHA:1452Мальф.
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Мальф.
Autosomal dominant

Cloacal exstrophy

ORPHA:93929Клин. под.
Multigenic/multifactorial

Closed iniencephaly

ORPHA:268366Клин. под.
Multigenic/multifactorial, Not applicable

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Мальф.

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Мальф.
Autosomal recessive

Coarctation of aorta

ORPHA:1457Морф.
Not applicable

Coats disease

ORPHA:190Ауру
Not applicable

Coats plus syndrome

ORPHA:313838Ауру
Autosomal recessive

Cobblestone lissencephaly

ORPHA:51577Клин. топ
Autosomal recessive

Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682Ауру
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Мальф.
Not applicable

Cocaine intoxication

ORPHA:90068Ауру
Not applicable

Coccidioidomycosis

ORPHA:228123Ауру
Not applicable