has material basis in germline mutation in LMNA mandibuloacral dysplasia with type A lipodystrophy https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy https://www.malacards.org/card/mandibuloacral_dysplasia_with_type_a_lipodystrophy OMIM:248370 MONDO:0009557 icd11.foundation:1756335062 MEDGEN:1757618 GARD:0003374 mandibuloacral dysplasia mandibuloacral dysplasia with type A lipodystrophy Orphanet:90153 A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. DOID:0081128 MADA SCTID:109419009 NCIT:C123417 MESH:C535705 UMLS:C5399785 mandibuloacral dysplasia laminopathy