Hypotonia, infantile, with psychomotor retardation and characteristic facies

A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).

Also known as: IHPRF, IHPRF syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, hypotonia-speech impairment-severe cognitive delay syndrome, infantile hypotonia-psychomotor retardation-characteristic facies syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Hypotonia, infantile, with psychomotor retardation and characteristic facies itself.