Phenotype #0000042916

Individual ID	00056289
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	weight 25th-50th
Diagnosis/Definite	-
Age/Examination	24y (24 years)
Height-Weight-OFC	weight <25th, heigth 0.4th-2nd, OFC 50th
Phenotype details	Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Tapering fingers Scoliosis Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Patent ductus arteriosus Short stature
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license
Created by	Guorui Hu
Date created	2015-12-09 14:17:57 +01:00 (CET)
Date last edited	2015-12-11 11:00:50 +01:00 (CET)

Global Variome shared LOVD