Disease

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

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.

Synonyms

NEDSFF

Cross References

MIM:620070

Parent Terms

diphthamide deficiency syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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