Diphthamide Deficiency Syndrome

Alias:

Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome

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

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

Developmental Delay-Short Stature-Dysmorphic Features-Sparse Hair Syndrome

Diphthamide-Deficiency Syndrome

Loucks-Innes Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Diphthamide Deficiency Syndrome, also known as craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome, is related to developmental delay with short stature, dysmorphic facial features, and sparse hair 2 and developmental delay with short stature, dysmorphic facial features, and sparse hair 1. An important gene associated with Diphthamide Deficiency Syndrome is DPH1 (Diphthamide Biosynthesis 1), and among its related pathways/superpathways is Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation. Affiliated tissues include bone and kidney, and related phenotypes are global developmental delay and abnormal facial shape

Related ID：

MALACARDS：DPH034