Global Variome shared LOVD

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Phenotype #0000023302 Individual ID 00027237 Associated disease KOS14 Phenotype details polyhydramnios (HP:0001561); birth 34w gestation, weight 2.05kg, length 42.5cm; normal growth; frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Prenatal - Age/Onset - Phenotype/Onset - Protein - Owner name Masayo Kagami Database submission license No license selected Created by Masayo Kagami Date created 2015-01-01 02:11:20 +01:00 (CET) Date last edited 2020-04-07 13:45:42 +02:00 (CEST)

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