Van Esch-O'Driscoll syndrome

A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the

A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.

Signs and symptoms

• Intellectual disability
• Microcephaly
• Global developmental delay
• Short stature
• Hypogonadotropic hypogonadism
• Growth delay
• Hypotonia
• Upslanted palpebral fissure
• Retrognathia
• Feeding difficulties

Also known as: MRXSVEOD; VEODS; X-linked intellectual disability, Van Esch type; X-linked syndromic mental retardation Van Esch-O'Driscoll type