Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 (DEDSSH1)

Alias:

Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair

Diphthamide Deficiency Syndrome 1

Loucks-Innes Syndrome

Dedssh1

Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

Dph1 Syndrome

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1, also known as developmental delay with short stature, dysmorphic facial features, and sparse hair, is related to diphthamide deficiency syndrome and developmental delay with short stature, dysmorphic facial features, and sparse hair 2. An important gene associated with Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 is DPH1 (Diphthamide Biosynthesis 1).

Related ID：

MALACARDS：DVL137

OMIM：616901

MESH：D001848