diphthamide deficiency syndrome 1

A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.

Signs and symptoms

• Epicanthus
• Scaphocephaly
• Sparse eyebrow
• Prominent forehead
• Hypertelorism
• Sparse eyelashes
• Intellectual disability
• Downslanted palpebral fissures
• Global developmental delay
• Depressed nasal bridge

Also known as: DEDSSH1; DPH1 syndrome; Loucks-Innes syndrome; developmental delay with short stature, dysmorphic facial features, and sparse hair 1