Phenotype #0000023305

Individual ID 00027240
Associated disease KOS14
Phenotype details polyhydramnios (HP:0001561); no large placenta (-HP:0006267); birth 36w gestation, weight 2.85kg, length 46.2cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); 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); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); coxa valga (HP:0002673); interrupted aortic arch & VSD; no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751)
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 03:02:32 +01:00 (CET)
Date last edited 2020-04-07 13:45:42 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.