has material basis in germline mutation in PCYT1A spondylometaphyseal dysplasia-cone-rod dystrophy syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/spondylometaphyseal_dysplasia_with_cone_rod_dystrophy MEDGEN:324684 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. spondylometaphyseal dysplasia-cone-rod dystrophy syndrome GARD:0010647 MESH:C563825 SMDCRD UMLS:C1837073 SMD-CRD SmD-CRD spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 Orphanet:85167 MONDO:0012160 OMIM:608940 spondylometaphyseal dysplasia