syndromic intellectual disability syndromic disease aniridia-ptosis-intellectual disability-familial obesity syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/aniridia_ptosis_intellectual_disability_familial_obesity_syndrome Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. MEDGEN:929405 Orphanet:1067 MONDO:0015198 GARD:0000689 aniridia - ptosis - intellectual disability - familial obesity SCTID:720987001 UMLS:C4303736