pontocerebellar hypoplasia type 11

A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or com

A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2.

Signs and symptoms

• Happy demeanor
• Severe intellectual disability
• Hypoplasia of the pons
• Motor stereotypy
• Cerebellar hypoplasia
• Global developmental delay
• Macrotia
• Spasticity
• Bulbous nose
• Decreased body weight

Also known as: PCH11