Term Name:	Lenz-Majewski hyperostotic dwarfism
Synonyms:	Lenz-Majewski syndrome
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.
Ontology:	Human Disease [DOID:0111507]   ( DOID:0111507 )