has material basis in germline mutation in LAMA5 autosomal dominant disease rheumatic disorder hereditary disorder of connective tissue LAMA5-related multisystemic syndrome https://github.com/monarch-initiative/mondo/issues/3601 https://www.malacards.org/card/lama5_related_multisystemic_syndrome GARD:0022146 MEDGEN:1806009 UMLS:C5681442 A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. MONDO:0033856 Orphanet:521450