Phenotype #0000042913

Individual ID	00056283
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	weight 2nd-9th
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Height-Weight-OFC	weight <0.4th, heigth <0.4th, OFC <0.4th
Phenotype details	Eyebrow lateral flare Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Poor sleep Short stature Postnatal growth retardation Intrauterine growth retardation Microcephaly
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license
Created by	Guorui Hu
Date created	2015-12-09 13:50:51 +01:00 (CET)
Date last edited	2015-12-11 10:54:20 +01:00 (CET)

Global Variome shared LOVD