syndromic intellectual disability pterygium colli-intellectual disability-digital anomalies syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/pterygium_colli_and_impaired_intellectual_development_with_facial_and_digital_anomalies https://www.malacards.org/card/pterygium_colli_intellectual_disability_digital_anomalies_syndrome OMIM:600159 pterygium colli intellectual disability digital anomalies khalifa-Graham syndrome pterygium colli and mental retardation with facial and digital anomalies pterygium colli and intellectual disability with facial and digital anomalies Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. SCTID:719256004 GARD:0004568 UMLS:C1838562 MEDGEN:374001 pterygium colli mental retardation digital anomalies MONDO:0010835 MESH:C535831 Orphanet:2988 multiple congenital anomalies/dysmorphic syndrome-intellectual disability