Phenotype #0000023314

Individual ID	00027248
Associated disease	KOS14
Phenotype details	polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 36w gestation, weight 2.94kg, length 46cm; normal growth; no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); no 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); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no 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 07:30:54 +01:00 (CET)
Date last edited	2020-04-07 13:45:42 +02:00 (CEST)