diphthamide deficiency syndrome 2

A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.

Signs and symptoms

• Short stature
• Global developmental delay
• Delayed gross motor development
• Notched primary central incisor
• Prominent forehead
• Sparse scalp hair
• Low-set ears
• Microcephaly
• Brachydactyly
• Hydrocele testis

Also known as: DEDSSH2; developmental delay with short stature, dysmorphic facial features, and sparse hair 2