neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

Term ID

DOID:0070479

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. https://pubmed.ncbi.nlm.nih.gov/35482014/

References

• MIM:620070

Ontology

Human Disease   ( DOID:0070479 )