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UNC80 Deficiency

, MD, PhD and , MSc, CCGC, CGC.

Author Information and Affiliations

Initial Posting: .

Estimated reading time: 14 minutes


Clinical characteristics.

UNC80 deficiency is characterized by hypotonia, strabismus, oral motor dysfunction, postnatal growth deficiency, and developmental delay. The majority of individuals do not learn to walk. All individuals lack expressive language; however, many have expressive body language, and a few have used signs to communicate. Seizures may develop during infancy or childhood. Additional features can include nystagmus, extremity hypertonia, a high-pitched cry, repetitive and self-stimulatory behaviors, constipation, clubfeet, joint contractures, and scoliosis. For most individuals the UNC80 deficiency syndrome is not progressive. Individuals have slow acquisition of skills and do not have a loss of skills suggestive of neurodegeneration.


The diagnosis of UNC80 deficiency is established in a proband with developmental delay and hypotonia by identification of biallelic pathogenic variants in UNC80 on molecular genetic testing.


Treatment of manifestations: G-tube feeding as needed for oral feeding difficulties; anti-seizure medication for seizure management; physical and occupational therapy for motor delay and sensory processing difficulties; ophthalmologic management for strabismus; braces and corrective surgeries as needed for orthopedic abnormalities; empiric management of constipation; sign language instruction or use of an alternate communication device for absent speech.

Surveillance: Annual evaluations for growth assessment, back exam for scoliosis, seizure management, evaluation of contractures, and ophthalmology examination.

Genetic counseling.

UNC80 deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if both pathogenic variants in a family are known.


No formal diagnostic criteria have been published.

Suggestive Findings

UNC80 deficiency should be suspected in individuals with the following clinical features:

  • Developmental delay
  • Moderate-to-severe intellectual disability
  • Absent speech (<5 words)
  • Hypotonia
  • Joint contractures
  • Postnatal growth restriction

Establishing the Diagnosis

The diagnosis of UNC80 deficiency is established in a proband with developmental delay and hypotonia by identification of biallelic pathogenic variants in UNC80 on molecular genetic testing (see Table 1).

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or a multigene panel) and genomic testing (comprehensive genome sequencing) depending on the phenotype.

Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotypes of many disorders with hypotonia, developmental delay, and intellectual disability overlap, most children with UNC80 deficiency are diagnosed by the following genomic testing options:

  • Comprehensive genomic testing (when clinically available) that includes exome sequencing and genome sequencing is one option.
    For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
  • A multigene panel that includes UNC80 and other genes of interest (see Differential Diagnosis) is another option. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Note: Single-gene testing (sequence analysis of UNC80) is rarely useful and typically NOT recommended.

Table 1.

Molecular Genetic Testing Used in UNC80 Deficiency

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
UNC80 Sequence analysis 319/19 4
Gene-targeted deletion/duplication analysis 5Unknown 6

See Molecular Genetics for information on allelic variants detected in this gene.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.


No data on detection rate of gene-targeted deletion/duplication analysis are available.

Clinical Characteristics

Clinical Description

UNC80 deficiency is a multisystem disorder. Table 2 indicates the frequency of clinical findings in this condition based on published reports. Clinical features vary and current evidence suggests dependency on the nature of the genetic variations.

Neurodevelopmental features. Individuals have congenital central hypotonia and strabismus. Some also manifest extremity hypertonia and a high-pitched cry. Seizures may develop during infancy or childhood. Focal seizures, generalized tonic-clonic seizures, myotonic seizures, aclonic seizures, and atypical absence seizures have been described. All respond well to anticonvulsive medications.

All individuals have developmental delay as well as severe intellectual disability. Oral motor dysfunction leads to difficulty with oral coordination, chewing, and swallowing. The majority of individuals do not learn to walk. All individuals lack expressive language, although many have expressive body language and a few have used signs to communicate.

For most individuals the UNC80 deficiency syndrome is not progressive. Individuals have slow acquisition of skills and do not have the loss of skills suggestive of neurodegeneration.

Behavioral features. Some individuals have behavioral difficulties including repetitive and self-stimulatory behaviors and difficulties with emotional regulation. The majority of individuals with UNC80 deficiency are social (i.e., they prefer people to objects). Some individuals show tactile aversion and hypersensitivity to stimuli. Some individuals seek significant oral stimulation.

Growth. All individuals have had normal prenatal growth. Postnatally, however, linear growth and weight remained below the 3rd centile. Poor feeding exacerbates the growth restriction; however, tube feedings with a calorie-rich diet generally do not result in weight for age above the 3rd centile. Individuals do not have evidence of endocrine anomalies that would account for the poor weight gain.

Gastrointestinal features. Constipation is common and has been attributed to hypotonia.

Musculoskeletal features. Many individuals have congenital clubfeet. Joint contractures (e.g., hip, elbow, knee) can present from an early age. Later-onset scoliosis can be seen. Ongoing physiotherapy, stretching, and bracing improves some of the limitations encountered with contractures and/or scoliosis. In individuals with more severe clubfeet or scoliosis, surgery may be considered.

Ophthalmologic features. Strabismus has been reported in all affected individuals and nystagmus is seen in half of affected individuals. One individual with structural ocular abnormalities (punctate keratopathy) has been reported. Vision is usually normal.

Facial features. The dysmorphic features reported appear to be nonspecific (see Table 2).

Table 2.

Frequency of Clinical Features in Individuals with UNC80 Pathogenic Variants

Clinical FeatureFrequency in Persons w/UNC80
Pathogenic Variants 1
# w/feature /
# reported 1
% w/feature
& behavioral
Severe ID or DD19/19100%
Global motor delay13/13100%
Feeding difficulties5/683%
Walking achieved3/650%
Absent speech or <5 words19/19100%
Dystonic posture of limbs9/9100%
Arm flapping2/2100%
Happy disposition2/2100%
Self-injurious behaviors2/2100%
Sensory hypersensitivities5/683%
Growth Normal birth parameters12/12100%
Postnatal height <3rd centile11/1292%
Postnatal weight <3rd centile11/1292%
Postnatal microcephaly11/1958%
Gastrointestinal Constipation5/683%
Musculoskeletal Scoliosis10/1377%
Joint contractures10/10100%
Long, thin fingers9/9100%
Tapering of distal phalanx9/9100%
Small hands & feet5/683%
Ophthalmologic Strabismus11/11100%
facial features
Triangular face16/1984%
Frontal bossing5/956%
Downslanted palpebral fissures10/1953%
Low-set/posteriorly rotated ears10/1759%
Broad nasal bridge11/1958%
Anteverted nares11/1958%
Enlarged nares7/1937%
Short & smooth philtrum10/1377%
Thin vermilion of upper lip8/1844%
Tented vermilion of upper lip10/1377%

DD = developmental delay; ID = intellectual disability

1: Total number of individuals with UNC80 deficiency who were assessed for the feature

Radiographic features. Although most affected individuals have normal brain MRI findings, nonspecific abnormalities such as a thin corpus callosum, mild diffuse brain atrophy, and borderline mild enlargement of the lateral and third ventricles and of the extra-axial space have been reported [Perez et al 2016, Shamseldin et al 2016, Stray-Pedersen et al 2016]. The skeletal features seen in affected individuals to date are primarily identified by physical exam.

Prognosis. Reported individuals span ages from birth to 15 years [Perez et al 2016, Shamseldin et al 2016, Stray-Pedersen et al 2016, Valkanas et al 2016]. To date, only one individual has died, of complications from infection; postmortem studies of the brain, spinal cord, nerve, muscle, liver, skin, and myocardium did not identify evidence of central nervous malformations or findings attributable to the underlying neurologic disorder [Valkanas et al 2016].

Genotype-Phenotype Correlations

Correlations of genotype to phenotype have shown that genotype does not predict disease severity or outcome either within or among families.


UNC80 deficiency is referred to as "infantile hypotonia with psychomotor retardation and characteristic facies 2" (IHPRF2) in OMIM (616801).


The prevalence is unknown. Nineteen individuals have been reported to date.

Differential Diagnosis

Based on affected individuals described to date [Perez et al 2016, Shamseldin et al 2016, Stray-Pedersen et al 2016, Valkanas et al 2016], UNC80 deficiency does not have pathognomonic features distinguishing it from the many disorders in which central hypotonia, intellectual disability, and developmental delay are observed. Description of additional affected individuals may eventually identify such pathognomonic features; however, until then UNC80 deficiency is best considered as clinically indistinguishable from many other genetic causes of hypotonia, developmental delay, and intellectual disability (some of which are listed in Table 3).

Table 3.

Disorders to Consider in the Differential Diagnosis of UNC80 Deficiency

Disorder 1Gene / Genetic MechanismDistinguishing Clinical Features
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
(OMIM 615419)
NALCN Distinctive facial features incl prominent forehead, short nose, wide mouth, micrognathia, & large, low-set ears; neuroaxonal dystrophy; optic atrophy
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
(OMIM 616900)
TBCK Distinctive facial features incl coarse face, bitemporal narrowing, highly arched eyebrows, deeply set eyes, high nasal bridge w/anteverted nares, macroglossia, gingival hyperplasia, & exaggerated cupid's bow; abnormal brain imaging; optic atrophy
Phelan-McDermid syndrome Terminal or interstitial deletion of chromosome 22q13.3Normal or accelerated growth, dolichocephaly, ptosis, epicanthal folds, large or prominent ears, pointed chin, fleshy hands, dysplastic toenails, tendency to overheat
Ring chromosome 22Mild prenatal growth deficiency; mild dysmorphic features incl hypertelorism, epicanthal folds, depressed nasal bridge, & micrognathia; genitourinary anomalies; coloboma of the iris, choroid, &/or optic nerve; microphthalmia; cleft palate; congenital heart malformations; hernias; internal & external ear anomalies
Prader-Willi syndrome Abnormal parent-specific imprinting w/in PWCRPolyphagia & obesity, thin vermilion of upper lip w/down-turned corners of the mouth, genitourinary anomalies, acquisition of speech & mobility
Angelman syndrome Deficient expression or function of the maternally inherited UBE3A alleleBursts of laughter, macrostomia, tongue protrusion, prognathism, widely spaced teeth, mild cortical atrophy
Glass syndrome
(OMIM 612313)
SATB2 Cleft palate, arachnodactyly, joint laxity, ectodermal anomalies
Rett syndrome MECP2 Postnatal microcephaly, seizures, poor growth, esotropia, scoliosis, repetitive behaviors

PWCR = Prader-Willi critical region


See hyperlinked GeneReview or OMIM phenotype entry for more information.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with UNC80 deficiency, the evaluations and referrals summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended.

Table 4.

Recommended Evaluations Following Initial Diagnosis

Constitutional Growth assessment incl height, weight, & head circumference
Eyes Ophthalmologic eval
Gastrointestinal Feeding eval
Musculoskeletal Orthopedic evalIf clubfeet &/or scoliosis is present
Neurologic EEGIf neurologic history suggests presence of seizures
Psychiatric Psychiatric evalIf behavioral problems are present
Psychoeducational &/or developmental evals (physical therapy, occupational therapy, speech therapy evals) to assess developmental delays & facilitate appropriate interventions
Consultation w/clinical geneticist &/or genetic counselor

Treatment of Manifestations

Table 5.

Treatment of Manifestations in Individuals with UNC80 Deficiency

Ocular abnormalities (nystagmus/strabismus)Ophthalmologic management
Oral feeding difficultiesG-tube feeding
ConstipationStandard management
Orthopedic abnormalities (clubfeet, scoliosis, joint contractures)Braces &/or corrective surgery
SeizuresAnti-seizure medication
Self-injurious behaviorBehavior modification therapy
Hypo/hypertonia, gross motor delays, sensory processing difficultiesPhysical therapy, occupational therapy
Absent speechSign language instruction; consider alternate forms of communication

Developmental Delay / Intellectual Disability Management Issues

The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States (US); standard recommendations may vary from country to country.

Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a federally funded program available in all states.

Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed.

Ages 5-21 years

  • In the US, an IEP based on the individual's level of function should be developed by the local public school district. Affected children are permitted to remain in the public school district until age 21.
  • Discussion about transition plans and medical arrangements should begin at age 12 years. Developmental pediatricians can provide assistance with transition to adulthood.

All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.

Consideration of private supportive therapies based on the affected individual's needs is recommended. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.

In the US:

  • Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
  • Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.

Motor Dysfunction

Gross motor dysfunction

  • Physical therapy is recommended to maximize mobility.
  • Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, lifts, bath chairs, orthotics, adaptive strollers).

Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.

Oral motor dysfunction. Assuming that the individual is safe to eat by mouth, feeding therapy – typically from an occupational or speech therapist – is recommended for affected individuals who have difficulty feeding due to poor oral motor control.

Communication issues. Consider evaluation for alternative means of communication (e.g., augmentative and alternative communication) for individuals who have expressive language difficulties.


Annual evaluation with the following specialists is appropriate:

  • Pediatrician for growth assessment
  • Neurologist to identify and manage seizures
  • Orthopedist for evaluation of contractures and back examination for scoliosis
  • Ophthalmologist for ocular manifestations and corrective therapy if needed

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

UNC80 deficiency is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes (i.e., carriers of one UNC80 pathogenic variant).
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband

  • The offspring of an individual with UNC80 deficiency are obligate heterozygotes (carriers) for a pathogenic variant in UNC80.
  • To date, no individuals diagnosed with UNC80 deficiency have been known to reproduce.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of a UNC80 pathogenic variant.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the UNC80 pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are carriers or are at risk of being carriers.

Prenatal Testing and Preimplantation Genetic Testing

Once the UNC80 pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

No specific resources for UNC80 Deficiency have been identified by GeneReviews staff.

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

UNC80 Deficiency: Genes and Databases

GeneChromosome LocusProteinHGMDClinVar
UNC80 2q34 Protein unc-80 homolog UNC80 UNC80

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for UNC80 Deficiency (View All in OMIM)


Gene structure. UNC80 transcript NM_032504.1 has 64 exons. UNC80 transcript NM_182587.3 has 63 exons. See Table A, Gene for a detailed summary of gene and protein information.

Pathogenic variants. Initially detected in Bedouin families, UNC80 pathogenic variants have subsequently been reported among individuals from many backgrounds. Variants causing loss of functional UNC80 have been identified throughout the gene.

Normal gene product. UNC80 isoform 1 has 3,258 amino acids. Isoform 2 has 3,234 amino acids. No functional domains have been well characterized. The UNC80 protein is part of a channel complex including NACLN and UNC79 [Lu et al 2010]. The similarity of the neurologic phenotypes of fruit flies and mice with loss of the UNC79, UNC80, and NALCN orthologs and the finding of direct association among the three proteins in mouse brains demonstrates the interdependency of these proteins in the channel complex [Lu et al 2007, Yeh et al 2008, Speca et al 2010, Al-Sayed et al 2013, Köroğlu et al 2013, Lear et al 2013, Perez et al 2016, Shamseldin et al 2016, Stray-Pedersen et al 2016].

This channel complex, which is predominantly expressed in the brain, is a voltage-insensitive and nonselective sodium leak channel [Yu et al 2005, Lu et al 2007, Snutch & Monteil 2007]. In cultured hippocampal neurons, it contributes to Na+ leak at voltages close to the resting membrane potential, and extracellular Ca2+ regulates neuronal excitability by controlling the NALCN-dependent Na+-leak current. The coupling between extracellular Ca2+ and NALCN occurs via a G protein-coupled receptor. UNC80 bridges NALCN to UNC79, and the presence of UNC80 and UNC79 are essential for NALCN channel function [Lu et al 2010, Lear et al 2013, Cochet-Bissuel et al 2014]. In mouse brain, both NALCN and UNC80 are tyrosine phosphorylated. NALCN is a cation channel activated by substance P receptor, and the coupling from receptor to channel is facilitated by UNC80 and Src kinases [Lu et al 2009].

Abnormal gene product. Recessive loss-of-function biallelic pathogenic variants of UNC80 cause UNC80 deficiency.

Chapter Notes

Revision History

  • 21 September 2017 (sw) Review posted live
  • 17 January 2017 (cds) Original submission


Literature Cited

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  • Lear BC, Darrah EJ, Aldrich BT, Gebre S, Scott RL, Nash HA, Allada R. UNC79 and UNC80, putative auxiliary subunits of the NARROW ABDOMEN ion channel, are indispensable for robust circadian locomotor rhythms in Drosophila. PLoS One. 2013;8:e78147. [PMC free article: PMC3818319] [PubMed: 24223770]
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  • Lu B, Zhang Q, Wang H, Wang Y, Nakayama M, Ren D. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex. Neuron. 2010;68:488–99. [PMC free article: PMC2987630] [PubMed: 21040849]
  • Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016;53:397–402. [PubMed: 26545877]
  • Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy. Am J Hum Genet. 2016;98:210–5. [PMC free article: PMC4716667] [PubMed: 26708753]
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  • Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Lupski JR, Ren D, Yoon G, et al. Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability. Am J Hum Genet. 2016;98:202–9. [PMC free article: PMC4716670] [PubMed: 26708751]
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