Lowry-Wood syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/7497 https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome https://www.malacards.org/card/lowry_wood_syndrome_2 Lowry-Wood syndrome MESH:C537038 MEDGEN:162899 MONDO:0009191 LWS epiphyseal dysplasia, microcephaly and nystagmus MedDRA:10062600 Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Orphanet:1824 SCTID:721975004 icd11.foundation:1713071905 OMIM:226960 epiphyseal dysplasia-microcephaly-nystagmus syndrome UMLS:C0796021 epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy GARD:0000264 Lowry Wood syndrome RNU4ATAC spectrum disorder primordial dwarfism and slender bone disorder