Phenotype #0000042926

Individual ID	00056307
Associated disease	WDSTS
Inheritance	Isolated (sporadic)
Diagnosis/Initial	-
Birth_Details	-
Diagnosis/Definite	-
Age/Examination	03y (3 years)
Height-Weight-OFC	-
Phenotype details	Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Ptosis Hypertelorism Deafness Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Tapering fingers Short fifth finger Sacral dimple Puffy hand and foot Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Low hair line Developmental delay Intellectual disability
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license
Created by	Guorui Hu
Date created	2015-12-09 15:48:16 +01:00 (CET)
Date last edited	2015-12-13 03:05:07 +01:00 (CET)

Global Variome shared LOVD