TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)

active

Code	`1222708006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20220531

Synonyms

Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Parents (8)

85995004Autosomal recessive hereditary disorder disorder
363005004Cardiovascular system hereditary disorder disorder
13213009Congenital heart disease disorder
363070008Developmental hereditary disorder disorder
224958001Global developmental delay disorder
363185004Hereditary disorder of the integument disorder
29966009Hypertrichosis disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder

Children (0)

None (leaf concept).