Human genes for Lenz-Majewski hyperostotic dwarfism
Lenz-Majewski hyperostotic dwarfism [DOID:0111507]
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 PTDSS1 on chromosome 8q22.1.
Synonyms: Lenz-Majewski hyperostotic dwarfism, DOID:0111507, LenzMajewski hyperostotic dwarfism, Lenz-Majewski hyperostotic dwarfisms, Lenz-Majewski syndrome ...