Lenz-Majewski hyperostotic dwarfism (DOID:0111507)
Alliance: disease page
Synonyms: Lenz-Majewski syndrome
Alt IDs: OMIM:151050, MESH:C537115, ORDO:2658, UMLS_CUI:C0432269
Definition: A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.