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GTR Home > Conditions/Phenotypes > Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Summary

Excerpted from the GeneReview: UNC80 Deficiency
UNC80 deficiency is characterized by developmental delay, neonatal hypotonia, severe intellectual disability, dysmorphic facial features, strabismus, dyskinetic limb movements, and neurobehavioral manifestations. The majority of individuals do not learn to walk. All individuals lack expressive speech; however, many have expressive body language, and a few have used signs to communicate. Seizures may develop during infancy or childhood. Additional common features include clubfeet, joint contractures, scoliosis, postnatal growth deficiency, increased risk of infections, sleeping difficulties, and constipation. Individuals have slow acquisition of developmental skills and do not have features suggestive of neurodegeneration.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nuria C Bramswig
Maha S Zaki
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Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C2orf21, UNC-80, UNC80
    Summary: unc-80 homolog, NALCN channel complex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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