| Phenotype details |
brith 41w+4, weight SD 0, OFC SD; Laryngomalacia and fissure,Deep-set eyes,Downslant,Retrognathia,Frontal bossing,Sleeping problems,Short neck,Asphyxia,Fetal finger pads; birth feeding problems 3y; seizures (HP:0001250); speech delayed (HP:0000750); contact problems; anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails (HP:0001792);; ;; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); agenesis corpus callosum (HP:0001274), colpocephalie; strabismus (HP:0000486), nystagmus (HP:0000639) |
