DO_rare_slim has material basis in autosomal recessive disease spondylometaphyseal dysplasia spondylometaphyseal dysplasia with cone-rod dystrophy A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. GARD:10647 MIM:608940 DOID:0112300 SMDCRD UMLS_CUI:C1837073 disease_ontology MESH:C563825 ORDO:85167 SMD-CRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome autosomal recessive inheritance