| Phenotype details |
brith 42w, weight SD -3; Tracheomalacia in infancy; birth feeding problems; no seizures (-HP:0001250); mild speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); no delayed bone age (-HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); |
