|
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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
diphthamide deficiency syndrome (is_a)