Phenotype #0000023307

Individual ID 00027242
Associated disease KOS14
Phenotype details no large placenta (-HP:0006267); birth 24w gestation, weight 1.24kg, length 30.6cm; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); 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); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); patent ductus arteriosus (HP:0001643); inguinal hernia (HP:0000023); no seizures (-HP:0001250); hepatoblastoma (HP:0002884); flat nasal bridge (HP:0005280); abnormal 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 2015-01-01 03:21:12 +01:00 (CET)
Date last edited 2020-04-07 13:45:42 +02:00 (CEST)

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