Mondo Description A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13

Uniprot Description A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles.

Disease Ontology Description A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.