短肋多指(趾)畸形综合征

Short rib-polydactyly syndrome

ORPHA:1505疾病组

定义英文原文（暂无中文）

A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
CEP120	centrosomal protein 120	ORPHA:474
CSPP1	centrosome and spindle pole associated protein 1	ORPHA:397715
DYNC2H1	dynein cytoplasmic 2 heavy chain 1	ORPHA:474
DYNC2I1	dynein 2 intermediate chain 1	ORPHA:474
DYNC2I2	dynein 2 intermediate chain 2	ORPHA:474
DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	ORPHA:474
EVC	EvC ciliary complex subunit 1	ORPHA:289
EVC2	EvC ciliary complex subunit 2	ORPHA:289
GLI1	GLI family zinc finger 1	ORPHA:289
IFT122	intraflagellar transport 122	ORPHA:1515
IFT140	intraflagellar transport 140	ORPHA:474
IFT172	intraflagellar transport 172	ORPHA:474
IFT43	intraflagellar transport 43	ORPHA:1515
IFT52	intraflagellar transport 52	ORPHA:1515
IFT54	intraflagellar transport 54	ORPHA:93269
IFT80	intraflagellar transport 80	ORPHA:474
KIAA0586	KIAA0586	ORPHA:397715
KIAA0753	KIAA0753	ORPHA:474
NEK1	NIMA related kinase 1	ORPHA:93269
PRKACA	protein kinase cAMP-activated catalytic subunit alpha	ORPHA:289
PRKACB	protein kinase cAMP-activated catalytic subunit beta	ORPHA:289
TTC21B	tetratricopeptide repeat domain 21B	ORPHA:474
WDR19	WD repeat domain 19	ORPHA:1515
WDR35	WD repeat domain 35	ORPHA:1515

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