autosomal recessive intellectual developmental disorder 70

An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25.

Signs and symptoms

• Wide nasal bridge
• Delayed speech and language development
• Febrile seizure (within the age range of 3 months to 6 years)
• Global developmental delay
• Hypotonia
• Urinary incontinence
• Motor delay
• Severe temper tantrums
• Drooling
• Retrognathia