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hypotonia, infantile, with psychomotor retardation and characteristic facies

Go to external page http://purl.obolibrary.org/obo/MONDO_0014176

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). [ Orphanet:371364 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:371364 (OMIM:615419)
  • OMIMPS:615419 (MONDO:equivalentTo)
  • UMLS:C4706556 (MONDO:equivalentTo)
  • GARD:17609 (Orphanet:371364)
Subsets

gard_rare, ordo_disease, rare, prototype_pattern, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://linkedlifedata.com/resource/umls/id/C4706556

https://omim.org/phenotypicSeries/PS615419

http://www.orpha.net/ORDO/Orphanet_371364

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0014176