Phenotype #0000042928

Individual ID	00056309
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	-
Diagnosis/Definite	-
Age/Examination	01y09m (1 year, 9 months)
Height-Weight-OFC	-
Phenotype details	original diagnosis CDLS; intrauterine growth retardation Microcephaly Short stature Thick hair Synophrys Arched eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Epicanthus Strabismus Low nasal bridge Dysmorphic ears Upper vermillion border, thin High-arched palate Long philtrum Widely spaced teeth Downturned corners of the mouth Micrognathia Brachydactyly Clinodactyly Hypertrichosis Low hair line Intellectual disability Normal behavioral problems Patent ductus arteriosus
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license	No license selected
Created by	Guorui Hu
Date created	2015-12-09 16:02:19 +01:00 (CET)
Date last edited	2015-12-13 03:18:41 +01:00 (CET)

Global Variome shared LOVD