Phenotype #0000034731

Individual ID	00048005
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	coarse face, low frontal hairline, synophrys, thick eyebrows, broad nose, thick, anteverted alae nasi, large mounth, Thin upper vermillion, thick lower vermillion, short philtrum, short neck and large ears,bilaterally big, large thumb and short second finger on food, hallux valgus and pes planus
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eyyup Uctepe
Database submission license	No license selected
Created by	Julia Lopez
Date created	2015-06-20 14:33:38 +02:00 (CEST)
Date last edited	2023-11-02 15:10:57 +01:00 (CET)

Global Variome shared LOVD