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Summary Literature (0)
DOID:0070479 - neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

Disease Ontology Definition:An diphthamide deficiency syndrome characterized by feeding difficulties, difficulty walking, and absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2.

Synonyms: NEDSFF,

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): diphthamide deficiency syndrome (is_a)