Phenotype #0000059354

Individual ID	00079630
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	at term, birth weight 3.3 kg (50th centile)
Diagnosis/Definite	-
Age/Examination	00y21m (21 months)
Height-Weight-OFC	weight 5.2 kg (far below the 0.4th centile) , head circumference of 46 cm (2nd centile)
Phenotype details	short stature; Slim and muscular build; microcephaly; Thick eyebrows -; Ptosis; Hypertelorism; Epicanthus; Microphthalmia -; Strabismus; Micrognathia -; Deep set ears; Prominent ear -; Auricular deformity -; Hearing loss -; normal hands and feet; pectus excavatum; Hypertrichosis, cubiti -; Hypertrichosis, back; Hypertrichosis, lower limbs -; Developmental delay; Intellectual disability; Hypotonia; Poor sleep; Feeding difficulties -; Cardiac anomaly -;
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license
Created by	Guorui Hu
Date created	2016-08-15 18:23:27 +02:00 (CEST)
Date last edited	2016-12-02 13:12:12 +01:00 (CET)

Global Variome shared LOVD