SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/763722004
http://purl.bioontology.org/ontology/SNOMEDCT/763722004
Preferred Name

Hypotonia, speech impairment, severe cognitive delay syndrome

Definitions
A rare genetic neurodegenerative disorder with characteristics of 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).
Synonyms
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)
IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome
Type http://www.w3.org/2002/07/owl#Class
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