hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Findings
No curated finding names hypotonia, infantile, with psychomotor retardation and characteristic facies 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
Definition from the Mondo Disease Ontology (MONDO:0024567), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- Joint contractureHPOHP:0034392
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
Show the remaining 6
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 2 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 2 reported patients
- StrabismusHPOHP:0000486
- 2 of 2 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NALCNHGNC:19082
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- Also called
- hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCNNALCN hypotonia, infantile, with psychomotor retardation and characteristic facies