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).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
IHPRF
exact
IHPRF syndrome
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies
exact
hypotonia-speech impairment-severe cognitive delay syndrome
exact
infantile hypotonia-psychomotor retardation-characteristic facies syndrome
exact
SPAC6F6.01