Phenotype #0000042914

Individual ID	00056284
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	weight 0.4th-2nd
Diagnosis/Definite	-
Age/Examination	12y (12 years)
Height-Weight-OFC	weight 25th, heigth 9th, OFC 50th
Phenotype details	Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Rib anomalies Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license
Created by	Guorui Hu
Date created	2015-12-09 14:01:58 +01:00 (CET)
Date last edited	2015-12-11 10:50:23 +01:00 (CET)

Global Variome shared LOVD