has material basis in germline mutation in B3GLCT syndromic disease eye disorder Peters plus syndrome https://github.com/monarch-initiative/mondo/issues/9206 https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome https://www.malacards.org/card/peters_plus_syndrome_2 An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. ICD9:743.44 Krause-van Schooneveld-Kivlin syndrome Orphanet:709 MEDGEN:163204 NCIT:C123436 DOID:0080201 Peters-plus syndrome SCTID:449817000 UMLS:C0796012 Krause-Kivlin syndrome DOID:0070312 OMIM:261540 MONDO:0009856 GARD:0008422 MESH:C537617 Peters anomaly with short limb dwarfism multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental anomaly of metabolic origin disorder of fucoglycosan synthesis cardiogenetic disease