obsolete_intellectual disability, autosomal dominant 52 true MONDO:0014815 Grozeva et al. (2014) reported 7 unrelated boys with moderate to severe intellectual disability. All showed delayed psychomotor development in infancy and poor speech development, but all were able to talk and communicate their needs. Five of the 7 had behavioral abnormalities, including obsessive-compulsive behavior, hand-flapping, and features of autism. Older children attended special schools or had educational support. Dysmorphic features were highly variable without a consistent pattern. However, features observed in 3 or more affected patients included synophrys or eyebrow anomalies, brachycephaly, low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Several patients had chewing difficulties or dribbling. Variable skeletal abnormalities, such as scoliosis, kyphosis, lordosis, and leg-length discrepancies were also reported. None had seizures, microcephaly, or growth retardation. UMLS:C4225168 Hannah McLaren Replaced by Mondo term MONDO_0030918, with which this term was previously merged. Use: http://purl.obolibrary.org/obo/MONDO_0030918 DOID:0080231 3.88.0 MRD52 http://purl.obolibrary.org/obo/MONDO_0030918 OMIM:617796