Term Name: | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
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Synonyms: | NEDSFF |
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. |
Ontology: | Human Disease [DOID:0070479] ( DOID:0070479 ) |