alpha thalassemia-intellectual disability syndrome type 1

A syndrome characterized by a variable phenotype including alpha thalassemia, intellectual disability, developmental abnormalities and/or speech delay, and facial dysmorphism that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HB

A syndrome characterized by a variable phenotype including alpha thalassemia, intellectual disability, developmental abnormalities and/or speech delay, and facial dysmorphism that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.

Signs and symptoms

• Upslanted palpebral fissure
• Hypochromic microcytic anemia
• Hypotonia
• Thin corpus callosum
• High palate
• Wide nasal bridge
• Talipes equinovarus
• Delayed speech and language development
• Delayed ability to walk
• Global developmental delay

Also known as: ATR syndrome linked to chromosome 16; ATR syndrome, deletion type; ATR-16 syndrome; alpha thalassemia-intellectual disability syndrome, deletion type; alpha thalassemia-retardation syndrome