| Phenotype details |
polyhydramnios (HP:0001561); no large placenta (-HP:0006267); birth 36w gestation, weight 2.85kg, length 46.2cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); coxa valga (HP:0002673); interrupted aortic arch & VSD; no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) |