Term Name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Synonyms: NEDSFF
Definition: An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.
Ontology: Human Disease [DOID:0070479]   ( DOID:0070479 )

Relationships
is a type of: diphthamide deficiency syndrome