neurodevelopmental disorder with seizures and impaired intellectual and language development

An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous muta

An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23.

Signs and symptoms

• Encephalopathy
• Astigmatism
• Strabismus
• Short nose
• Generalized hypotonia
• Nystagmus
• Cataract
• Hyperactivity
• Abnormal vertebral morphology
• Large earlobe