Phenotype #0000023287
| Individual ID |
00027213 |
| Associated disease |
KOS14 |
| Phenotype details |
karyotype 46XX, age parents at birth father 27y/mother 28y, delivery caesarean section, no medically assisted reproduction; current height 105 cm (SD-1.6), weight 16.8 kg (SD-0.9); mechanical ventialtion (1m), oxygen administration (36m) no respiratory rehabilitation; tube feeding (51m), no rehabilitation for eating; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 30w gestation, weight 1.55 kg (SD+0.9)kg, length 42 cm (SD+1.5); normal growth; frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); 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); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); head-6m, sit-18m, walk-24m; no contractures (-HP:0001371); coxa valga (HP:0002673); patent ductus arteriosus (HP:0001643); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
05y01m (5 years, 1 month) |
| Age/Diagnosis |
- |
| Prenatal |
no thoracic abnormality, no abdominal abnormality |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Masayo Kagami |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2014-12-30 15:46:55 +01:00 (CET) |
| Date last edited |
2020-04-07 13:45:42 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
