Phenotype #0000023265

Individual ID	00027193
Associated disease	KOS14
Phenotype details	karyotype 46XX; placental weight 429g (143%), vaginal delivery, no medical assisted reproduction, at birth father 34y/mother 31y; current heigth 59.5 cm (SD-2.2), current weight 6.2 kg (SD-2.2); tracheostomy?, 5m mechanical vantialtion, oxygen administration?, respiratory rehabilitation/; tube feeding (rehabilitation eating unknown); sudden death from upper respiratory infection; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 27w gestation, weight 1.30 kg (SD+2.4)kg; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); pursed lips (HP:0000205); 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); coxa valga (HP:0002673); no heart abnormality (-HP:0001627); inguinal hernia (HP:0000023); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288);
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	00y09m (9 months)
Age/Diagnosis	-
Prenatal	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Masayo Kagami
Database submission license	No license selected
Created by	Masayo Kagami
Date created	2014-12-24 23:01:18 +01:00 (CET)
Date last edited	2020-04-07 13:45:42 +02:00 (CEST)