syndromic intellectual disability congenital nervous system disorder hypotonia, infantile, with psychomotor retardation and characteristic facies https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies hypotonia, infantile, with psychomotor retardation and characteristic facies infantile hypotonia-psychomotor retardation-characteristic facies syndrome UMLS:C4706556 MONDO:0014176 Orphanet:371364 hypotonia-speech impairment-severe cognitive delay syndrome IHPRF GARD:0017609 MEDGEN:1642314 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). IHPRF syndrome OMIMPS:615419 multiple congenital anomalies/dysmorphic syndrome-intellectual disability inherited neurodegenerative disorder