has material basis in germline mutation in GNPTG GNPTG-mucolipidosis https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6021 https://www.malacards.org/card/mucolipidosis_iii_gamma MEDGEN:340743 mucolipidosis III, variant form A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. mucolipidosis III, Iranian variant form NCIT:C129978 GNPTG-mucolipidosis UMLS:C1854896 OMIM:252605 DOID:0080678 GARD:0017705 mucolipidosis 3 gamma mucolipidosis III gamma mucolipidosis III, complementation group C ML 3C mucolipidosis type 3 gamma MESH:C565367 Orphanet:423470 MONDO:0009652 mucolipidosis type III gamma mucolipidosis 3C ML III gamma ML 3 gamma familial mucolipidosis lysosomal storage disease with skeletal involvement