Phenotype #0000023291
| Individual ID |
00027218 |
| Associated disease |
KOS14 |
| Phenotype details |
karyotype 46XY, birth caesarean section, placenta 642g (163%), amnioreduction (5x 27-30w), at birth father 39y/mother 36y; present height 112 cm (SD-3.3), present weight 21.4 kg (SD-1.3); no tracheostomy, mechanical ventilation (10m), oxygen administration (103m), respiratory rehabilitation?; tube feeding (89m), rehabilitation for eating; school special class; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 30w gestation, weight 2.04 kg (SD+2.8)kg; prenatal overgrowth (HP:0003517); overgrowth (HP:0001548); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); 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); sit-27m, walk-90m; 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); kyphoscoliosis (HP:0002751) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial |
| Diagnosis/Definite |
- |
| Age/Examination |
08y11m (8 years, 11 months) |
| Age/Diagnosis |
- |
| Prenatal |
- |
| 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 17:49:02 +01:00 (CET) |
| Date last edited |
2020-04-07 13:45:42 +02:00 (CEST) |
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