disease arises from structure disease arises from alteration in structure Xp11.3 (Human) atypical Norrie disease due to monosomy Xp11.3 https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/atypical_norrie_disease_due_to_monosomy_xp113 UMLS:C4518083 GARD:0020782 Orphanet:261501 MEDGEN:1377538 MONDO:0016850 SCTID:733626002 Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. atypical Norrie disease due to Xp11.3 microdeletion atypical Norrie disease due to del(X)(p11.3) partial monosomy of the short arm of chromosome X