autosomal recessive intellectual developmental disorder 77

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosom

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.

Signs and symptoms

• Nystagmus
• Global developmental delay
• Unsteady gait
• Intellectual disability
• Head tremor
• Hypernasal speech
• Poor wound healing
• Joint hypermobility
• Self-biting