Phenotype #0000023318

Individual ID	00027253
Associated disease	KOS14
Phenotype details	polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 37w gestation, weight 2.56kg, length 43.5cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); no anteverted nares (-HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); no 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); no contractures (-HP:0001371); coxa valga (HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); hepatoblastoma (HP:0002884); 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 10:41:17 +01:00 (CET)
Date last edited	2020-04-07 13:45:42 +02:00 (CEST)