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GENATLAS PHENOTYPE

last update : 06-01-2016

Symbol	CSCKT1
Location	6p21.3
Name	circumferential skin creases Kunze type syndrome 1
Corresponding gene	TUBB
Main clinical features	craniofacial anomalies, cleft palate, hypoplastic scrotum, inguinal and umbilical hernias, mental retardation, hypertrichosis, and circumferential ringed creases; hypertelorism, small palpebral fissures, and low-set ears with overfolded helices and prominent lobes
Genetic determination	not applicable
Function/system disorder	connective tissue
	dermatology
	mental retardation
	ear
Type	disease

Remark(s)

TUBB mutations compromise microtubule dynamics (PMID: 26637975))