infantile hypotonia with psychomotor retardation and characteristic facies-3

An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound hetero

An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.

Signs and symptoms

• Generalized hypotonia
• Thin corpus callosum
• Overlapping toe
• Profound global developmental delay
• Pectus excavatum
• Proptosis
• Distal amyotrophy
• Limb muscle weakness
• Ventriculomegaly
• Axial muscle weakness

Also known as: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3; TBCK-related intellectual disability syndrome