developmental delay, hypotonia, and impaired language

An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chro

An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31.

Signs and symptoms

• Global developmental delay
• Intellectual disability
• Abnormal brain morphology
• Hypotonia
• Feeding difficulties
• Constipation
• Macrocephaly
• Seizure
• Gastroesophageal reflux
• Cryptorchidism

Also known as: DEDHIL