Phenotype #0000042912

Individual ID	00056281
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	weight 75th percentile
Diagnosis/Definite	-
Age/Examination	06y (6 years)
Height-Weight-OFC	6y height 0.4th-2nd; weight 2nd-9th; OFC 9th
Phenotype details	Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Broad first digits Slim and muscular build Rib anomalies Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Aggressive behavior Poor sleep Short stature Postnatal growth retardation
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 13:40:30 +01:00 (CET)
Date last edited	2015-12-11 07:21:22 +01:00 (CET)

Global Variome shared LOVD