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GENATLAS PHENOTYPE

last update : 31-03-2015

Symbol	ARCL1C
Location	19q13.2
Name	cutis laxa, autosomal recessive, type IC
Corresponding gene	LTBP4
Main clinical features	generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic hernia joint laxity and low muscle tone contributed to musculoskeletal problems compounded by postnatal growth delay; craniofacial features included microretrognathia, flat midface, receding forehead, and wide fontanelles
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	digestive tract/gastrointestinal
	respiratory
Type	disease

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