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

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 chro

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.

Signs and symptoms

• Short stature
• Profound intellectual disability
• Absent speech
• Feeding difficulties
• Global developmental delay
• Tapered finger
• Epicanthus
• Hypotonia
• Sparse eyebrow
• Narrow forehead

Also known as: NEDSFF