Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.
Horn
Denise
D
Weschke
Bernhard
B
Zweier
Christiane
C
Rauch
Anita
A
D000015:Abnormalities, Multiple; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005801:Genes, Homeobox; D006627:Hirschsprung Disease / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D016335:Zinc Fingers / Q000235:genetics