Harel-Tora neurodevelopmental syndrome

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozyg

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21.

Signs and symptoms

• Inability to walk
• Moderate intellectual disability
• Profound intellectual disability
• Gastroesophageal reflux
• Ataxia
• Gait imbalance
• Broad hallux
• Overlapping toe
• Long fingers
• Recurrent urinary tract infections