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hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
Uniprot Description A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies.
Mondo Term and Equivalent IDs
MONDO:0024567:  hypotonia, infantile, with psychomotor retardation and characteristic facies 1
UMLS:C3809454: