Phenotype #0000042918

Individual ID	00056291
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	-
Diagnosis/Definite	-
Age/Examination	01y (1 year)
Height-Weight-OFC	-
Phenotype details	Thick hair Prominent forehead Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Microphthalmia Wide nasal bridge Micrognathia Broad first digits Tapering fingers 3–4 partial left-hand syndactyly 2-3 toe syndactyly Sacral dimple Small hands and feet pectus excavatum Wide anterior fontanelle Hypertrichosis, back Low hair line Developmental delay Hypotonia Short stature 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 14:41:22 +01:00 (CET)
Date last edited	2015-12-11 12:06:18 +01:00 (CET)

Global Variome shared LOVD