Phenotype #0000024714

Individual ID 00028649
Associated disease KOS14
Phenotype details no polyhydramnios (-HP:0001561); no large placenta (-HP:0006267); birth 28w gestation, weight 1.32kg, length 34cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); no anteverted nares (-HP:0000463); no 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); normal; no contractures (-HP:0001371); no coxa valga (-HP:0002673); patent ductus arteriosus (HP:0001643); omphalocele (HP:0001539); no seizures (-HP:0001250); no flat nasal bridge (-HP:0005280); normal philtrum (-HP:0000288); no scoliosis (-HP:0002650)
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 2015-01-02 04:20:38 +01:00 (CET)
Date last edited 2020-04-07 13:45:42 +02:00 (CEST)

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