| umls-concept:C0265291 | skos:definition | JABL: In the classical form, the syndrome involves the skeletal and endocrine system and is manifested by inner cortical thickening with stenosis of the medullary cavities of the tubular bones, short stature, episodes of hypocalcemia due to hypoparathyroidism, and macrocephaly. The phenotype was expanded in later cases to include central nervous system and immunological disorders and psychomotor retardation. | lld:umls |
