diphthamide deficiency syndrome

Term ID

DOID:0070476

Synonyms

craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
DEDSSH
developmental delay with short stature, dysmorphic facial features, and sparse hair

Definition

An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (2)

References

MIM:PS616901
ORDO:459061

Ontology

Human Disease ( DOID:0070476 )

Relationships

is a type of: amino acid metabolic disorder autosomal recessive disease

amino acid metabolic disorder autosomal recessive disease Show first 5 Terms
has subtype: diphthamide deficiency syndrome 1 diphthamide deficiency syndrome 2 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

diphthamide deficiency syndrome 1 diphthamide deficiency syndrome 2 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models