Details of Disease

General Information of Disease (ID: DISFA88I)

• Disease Name: Hypotonia, infantile, with psychomotor retardation and characteristic facies
• Synonyms: infantile hypotonia-psychomotor retardation-characteristic facies syndrome; hypotonia, infantile, with psychomotor retardation and characteristic facies; IHPRF; hypotonia-speech impairment-severe cognitive delay syndrome; IHPRF syndrome
• Definition: 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).
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISPN7D2: Inherited neurodegenerative disorder
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISFA88I: Hypotonia, infantile, with psychomotor retardation and characteristic facies
• Disease Identifiers:
  MONDO ID: MONDO_0014176
  UMLS CUI: C4706556
  MedGen ID: 1642314
  Orphanet ID: 371364
  SNOMED CT ID: 763722004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UNC80	OTOKH69N	Supportive	Autosomal recessive	[1]
NALCN	OTWY7DS0	Supportive	Autosomal recessive	[2]

References

• [1] Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17.
• [2] Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J Med Genet. 2013 Aug;50(8):515-20. doi: 10.1136/jmedgenet-2013-101634. Epub 2013 Jun 7.