autosomal dominant intellectual developmental disorder 66

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chrom

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21.

Signs and symptoms

• Global developmental delay
• Intellectual disability
• Autistic behavior
• Seizure
• Arachnodactyly
• Scoliosis
• Hypotonia
• Secundum atrial septal defect
• Cerebral cavernous malformation
• Sparse hair