Details of Disease

General Information of Disease (ID: DIS8ZUPE)

Disease Name Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Synonyms
Ihprf; IHPRF1; hypotonia, infantile, with psychomotor retardation and characteristic facies 1; hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN; NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies
Definition Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
Disease Hierarchy
DISFA88I: Hypotonia, infantile, with psychomotor retardation and characteristic facies
DIS8ZUPE: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Disease Identifiers
MONDO ID
MONDO_0024567
UMLS CUI
C3809454
OMIM ID
615419
MedGen ID
815784

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NALCN OTWY7DS0 Definitive Autosomal recessive [1]
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References

1 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.