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Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:37 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Strabismus, Seizure, Short nose, and Prominent forehead and others; and common findings: Sideways curvature of the spine (scoliosis) and Pectus carinatum. 36 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Poor speech, Seizure, Overactive reflexes (hyperreflexia) |
Muscles | 4 | Axial hypotonia, Skeletal muscle atrophy, Joint contracture |
Eyes | 3 | Strabismus, Nystagmus, Damage to the optic nerve (optic atrophy) |
Digestive system | 3 | Gastroesophageal reflux, Constipation, Feeding difficulties |
Head and neck | 3 | Thin upper lip vermilion, Microcephaly, Triangular face |
Bones and joints | 3 | Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis), Joint contracture |
Growth and development | 2 | Postnatal growth retardation, Intrauterine growth retardation |
NALCN encodes sodium leak channel, non-selective (1,738 aa). Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability. Highest expression in Brain Cerebellar Hemisphere (17.0 TPM) and Brain Cerebellum (14.5 TPM).
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 is associated with mutations in the NALCN gene on chromosome 13.
The NALCN protein participates in UNC79:UNC80:NALCN transports Na+ extracellular region to cytosol pathway.
NALCN is classified as a druggable target (Druggable Genome, G Protein Coupled Receptor, Ion Channel, Kinase, and Transporter categories) with score 1.7.
Genetic testing for NALCN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 17 always present features, 2 common features.
No clinical trials have been registered for hypotonia, infantile, with psychomotor retardation and characteristic facies 1.
7 publications have been identified in PubMed for hypotonia, infantile, with psychomotor retardation and characteristic facies 1. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).
Benvenuto M (2026). [PMID: 40801661](https://pubmed.ncbi.nlm.nih.gov/40801661/). *Am J Med Genet A*. [Case Report / Case Series]
Santos JG (2025). [PMID: 39923770](https://pubmed.ncbi.nlm.nih.gov/39923770/). *Anesth Pain Med (Seoul)*. [Case Report / Case Series]
Sunnetci-Akkoyunlu D (2025). [PMID: 41153369](https://pubmed.ncbi.nlm.nih.gov/41153369/). *Genes (Basel)*. [Epidemiology / Natural History]
Sartorelli J (2025). [PMID: 39914470](https://pubmed.ncbi.nlm.nih.gov/39914470/). *Neuropediatrics*. [Review / Meta-Analysis]
Parra-Díaz P (2025). [PMID: 40048676](https://pubmed.ncbi.nlm.nih.gov/40048676/). *Neurology*. [Basic Science / Preclinical]
Chen Y (2024). [PMID: 38873579](https://pubmed.ncbi.nlm.nih.gov/38873579/). *Front Pediatr*. [Case Report / Case Series]
Vecchio D (2024). [PMID: 39722796](https://pubmed.ncbi.nlm.nih.gov/39722796/). *Front Genet*. [Basic Science / Preclinical]