Phenotype #0000023310

Individual ID 00027245
Associated disease KOS14
Phenotype details polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 32w gestation; normal growth; 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); 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); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); no hernia (-HP:0100790); 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 04:47:11 +01:00 (CET)
Date last edited 2020-04-07 13:45:42 +02:00 (CEST)

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