Phenotype #0000023290

Individual ID	00027217
Associated disease	KOS14
Phenotype details	karyotype 46XY r(14)(p11q32), placental weight 600 g (123%), partial abruption placenta, vaginal birth, presen length 65.0 cm (SD-3.4), weight 5.7 kg (SD-3.9); periodical mechanical ventialtion; retractile convulsion, microcephaly, high arched palate, undermasculinized genitalia; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 2.44 kg (SD+0.2)kg, length 45.4 cm (SD-0); 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); no anteverted nares (-HP:0000463); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); no heart abnormality (-HP:0001627); no hernia (-HP:0100790); seizures (HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	00y11m (11 months)
Age/Diagnosis	-
Prenatal	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Masayo Kagami
Database submission license
Created by	Johan den Dunnen
Date created	2014-12-30 17:24:41 +01:00 (CET)
Date last edited	2020-04-07 13:45:42 +02:00 (CEST)