Clinical characteristics.

SYNCRIP-related neurodevelopmental disorder (SYNCRIP-NDD) is characterized by borderline-to-moderate developmental delay / intellectual disability, neurobehavioral/psychiatric manifestations (autism spectrum disorder, attention-deficit/hyperactivity disorder, and/or sleep disturbances), ocular and vision anomalies, and seizures. Hypotonia and movement disorders are also common. Hand and foot anomalies, kidney anomalies, and growth delay can also be present.

Diagnosis/testing.

The diagnosis of SYNCRIP-NDD is established in a proband with suggestive findings and a heterozygous pathogenic variant in SYNCRIP identified by molecular genetic testing.

Management.

Treatment of manifestations: Developmental and educational support; standard treatments for neurobehavioral issues; medical treatment of severe hypertonia and/or spasticity per appropriate specialists; treatment of seizures and movement disorders per experienced neurologist; management of refractive errors and strabismus per ophthalmologist; low vision services as needed; lifestyle and academic modifications for cortical visual impairment; management of orthopedic manifestations can include physical and occupational therapy and surgery as needed; standard treatment of kidney anomalies per nephrologist; feeding therapy and/or gastrostomy tube placement as needed; transition to adult care; social work and care coordination.

Surveillance: At each visit assess developmental progress, educational needs, seizures, changes in tone, movement disorders, neurobehavioral/psychiatric manifestations, eyes and vision, mobility and self-help skills, kidney function, growth, nutrition, feeding, constipation, and family needs.

Genetic counseling.

SYNCRIP-NDD is an autosomal dominant disorder. Most probands reported to date with SYNCRIP-NDD whose parents have undergone molecular genetic testing have the disorder as the result of a de novo pathogenic variant. Transmission of a SYNCRIP pathogenic variant from an affected parent to an affected child has been reported in one family. Once the SYNCRIP pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Suggestive Findings

SYNCRIP-NDD should be considered in probands with the following clinical and brain MRI findings and family history.

Clinical findings

• Speech and language delay and/or apraxia
• Mild-to-moderate motor delay
• Generalized hypotonia
• Infant feeding difficulties
• Mild-to-moderate intellectual disability
• Epilepsy, including generalized tonic-clonic seizures and absence seizures
• Autism spectrum disorder or autistic features
• Ocular and vision manifestations (astigmatism, myopia, hyperopia, strabismus)

Imaging findings. The most common brain MRI findings are nonspecific but include:

• Ventriculomegaly or abnormal ventricle morphology
• Chiari malformation
• Corpus callosum anomalies
• Cortical dysplasia

Family history. Because SYNCRIP-NDD is typically caused by a de novo pathogenic variant, most probands represent a simplex case (i.e., a single occurrence in a family). Rarely, SYNCRIP-NDD may be inherited from an affected parent, consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations).

Establishing the Diagnosis

The diagnosis of SYNCRIP-NDD is established in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in SYNCRIP identified by molecular genetic testing (see Table 1).

Note: (1) Per American College of Medical Genetics and Genomics (ACMG) / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of a heterozygous SYNCRIP variant of uncertain significance does not establish or rule out the diagnosis.

Molecular genetic testing in a child with developmental delay or an older individual with intellectual disability may begin with exome sequencing / genome sequencing [Manickam et al 2021, van der Sanden et al 2023]. Other options include use of a multigene panel. Note: Single-gene testing (sequence analysis of SYNCRIP followed by gene-targeted deletion/duplication analysis) is rarely useful and typically NOT recommended.

• Comprehensive genomic testing does not require the clinician to determine which gene(s) are likely involved. Exome sequencing is most commonly used and yields results similar to an intellectual disability multigene panel, with the additional advantage that exome sequencing includes genes recently identified as causing intellectual disability, whereas some multigene panels may not. To date, the majority of SYNCRIP pathogenic variants reported (e.g., missense, nonsense) are within the coding region and are likely to be identified on exome sequencing. Genome sequencing is also possible. ACMG and the American Academy of Pediatrics recommend exome/genome sequencing as first- or second-tier diagnostic testing for children with developmental delay, intellectual disability, and/or multiple congenital anomalies [Manickam et al 2021, Rodan et al 2025].
  For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
• An intellectual disability multigene panel that includes SYNCRIP and other genes of interest (see Differential Diagnosis) may be considered to identify the genetic cause of the condition while limiting identification of pathogenic variants and variants of uncertain significance in genes that do not explain the underlying phenotype. 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. Given the rarity of SYNCRIP-NDD, some panels for intellectual disability may not include this gene. (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.

Clinical Description

SYNCRIP-related neurodevelopmental disorder (SYNCRIP-NDD) is characterized by global developmental delay, mild-to-moderate intellectual disability, epilepsy, hypotonia, and structural brain anomalies. To date, 45 individuals have been identified with a pathogenic variant in SYNCRIP [Rauch et al 2012, Lelieveld et al 2016, Beighley et al 2020, Gillentine et al 2021, Semino et al 2021, Hamanaka et al 2022, Shafiq et al 2024, Birnbaum et al 2024, Gillentine 2025]. The following description of the phenotypic features associated with this condition is based on these reports.

Developmental delay and intellectual disability, often involving all developmental domains in those affected and falling into the borderline-to-moderate range, is seen in almost all reported individuals to date.

Speech delay is common, and approximately 10% of reported individuals are nonverbal. Limited speech and ability to speak in short sentences has been described in some individuals. Apraxia of speech has been described in some individuals.

Mild motor delays are typical. Hypotonia is also a common feature in individuals with SYNCRIP-NDD, especially during the neonatal period and in early infancy, and may persist into later childhood and adulthood.

To date, most individuals have required special educational provisions, although children with SYNCRIP-NDD may be able to attend a mainstream school with dedicated support. Few adults have been reported, but is it expected that the majority of adults will require assistance with tasks of daily living.

Epilepsy. Seizures are reported in less than half of individuals with SYNCRIP-NDD. Onset is often in the first decade of life, primarily in toddler age and above. Multiple seizure types have been observed, including absence and generalized tonic-clonic seizures. Some individuals have refractory epilepsy requiring multiple anti-seizure medications.

Movement disorders / abnormal muscle tone. Abnormal gait (ataxia, wide-based, immature, and/or unstable gait) has been reported among individuals with SYNCRIP-NDD. Some individuals may develop hypertonia leading to spasticity. Dystonia, poor motor coordination, tremor, and hyperkinetic movements are also reported.

Neurobehavioral/psychiatric manifestations. Autism spectrum disorder or autistic features are the most common neurobehavioral manifestations in individuals with SYNCRIP-NDD. Attention-deficit/hyperactivity disorder (ADHD) or attention difficulties, sleep disturbances (early waking, difficulties falling or staying asleep, and disrupted sleep patterns), and anxiety have also been reported in individuals with SYNCRIP-NDD.

Ophthalmologic involvement. Vision and/or eye anomalies can include myopia, astigmatism, hyperopia, strabismus, eye alignment issues, and/or cortical visual impairment.

Facial features. No specific dysmorphic features have been observed. If present, dysmorphic features are nonspecific.

Musculoskeletal manifestations include 2-3 toe syndactyly, sandal gap, long fingers and toes, and pes planus. Joint hypermobility is also reported.

Genitourinary abnormalities. Kidney anomalies can include multicystic kidneys and renal agenesis. Hydronephrosis and chronic kidney disease are also reported. Multiple individuals are reported to have neurogenic bladder. Cryptorchidism has been reported in one individual.

Growth. Poor weight gain and growth delay are observed in some individuals with SYNCRIP-NDD. While rare, both microcephaly and macrocephaly have been observed among individuals with SYNCRIP-NDD.

Gastrointestinal problems. Infant feeding difficulties including dysphagia and need for feeding tube have been reported in a small number of children but typically resolve in due course. Other manifestations include gastroesophageal reflux and/or constipation.

Neuroimaging. Nonspecific findings are reported, including ventriculomegaly or abnormal ventricle morphology, Chiari malformation, corpus callosum anomalies, and/or cortical dysplasia.

Prognosis. It is unknown whether life span in individuals with SYNCRIP-NDD is reduced. Based on current data, life span is not significantly limited by this condition, as multiple adults have been reported. Data on possible progression of behavior abnormalities or neurologic findings are still emerging. Since many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with this condition are underrecognized and underreported.

Genotype-Phenotype Correlations

No clinically relevant genotype-phenotype correlations have been identified.

Penetrance

Penetrance is nearly 100%, although as with any recently described rare NDD, it is possible that reduced penetrance with unaffected parental inheritance may emerge in due course. In the single family with an inherited variant, the affected mother was independent and presented with mildly distinct facial features, autism spectrum disorder, vision differences, and epilepsy with one episode of status epilepticus, while the child presented with similar facial features, autism spectrum disorder, was nonverbal, and had severe, retractable epilepsy, suggesting variable expressivity. Notably, a small number of loss-of-function variants have been observed in large population studies, and it is unclear if these are mildly affected individuals or if there may be reduced penetrance.

Prevalence

The prevalence of this condition is estimated to be about one in 215,000 live births, although this is likely an underestimate [Gillentine et al 2022]. To date, approximately 45 individuals with SYNCRIP-NDD have been reported.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with SYNCRIP-NDD, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to diagnosis) are recommended.

Treatment of Manifestations

Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 4).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 5 are recommended.

Agents/Circumstances to Avoid

It is unclear what may provoke seizures among individuals with SYNCRIP-NDD. Heat intolerance has anecdotally been reported to trigger seizures.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing 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.

Mode of Inheritance

SYNCRIP-related neurodevelopmental disorder (SYNCRIP-NDD) is an autosomal dominant disorder typically caused by a de novo pathogenic variant.

Risk to Family Members

Parents of a proband

• Most probands reported to date with SYNCRIP-NDD whose parents have undergone molecular genetic testing have the disorder as the result of a de novo SYNCRIP pathogenic variant.
• Rarely, an individual diagnosed with SYNCRIP-NDD has the disorder as the result of a SYNCRIP pathogenic variant inherited from a parent. Transmission of a SYNCRIP pathogenic variant from an affected parent to an affected child has been reported in one family to date [M Balasubramanian, J Bain, & M Gillentine, unpublished data].
• Molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment.
• If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism.* Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only. (Possible mosaicism was reported in the father of a child with SYNCRIP-NDD [Shafiq et al 2024].)
    * A parent with somatic and gonadal mosaicism for a SYNCRIP pathogenic variant may be mildly/minimally affected.

Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the proband's parents:

• If a parent of the proband is known to have the SYNCRIP pathogenic variant identified in the proband, the risk to the sibs of inheriting the variant is 50%.
• If the SYNCRIP pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is slightly greater than that of the general population because of the possibility of parental gonadal mosaicism [Shafiq et al 2024].
• If the parents have not been tested for the SYNCRIP pathogenic variant but are clinically unaffected, the risk to the sibs of a proband appears to be low. However, sibs of a proband with clinically unaffected parents are still presumed to be at increased risk for SYNCRIP-NDD because of the possibility of reduced penetrance in a heterozygous parent and the possibility of parental gonadal mosaicism.

Offspring of a proband. Each child of an individual with SYNCRIP-NDD has a 50% chance of inheriting the SYNCRIP pathogenic variant.

Other family members

• The risk to other family members depends on the status of the proband's parents: if a parent has the SYNCRIP pathogenic variant, the parent's family members may be at risk.
• Given that most probands with SYNCRIP-NDD reported to date have the disorder as a result of a de novo SYNCRIP pathogenic variant, the risk to other family members is presumed to be low.

Related Genetic Counseling Issues

Family planning

• The optimal time for determination of genetic risk 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 parents of affected individuals.

Prenatal Testing and Preimplantation Genetic Testing

Once the SYNCRIP pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

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

Molecular Pathogenesis

SYNCRIP encodes heterogeneous nuclear ribonucleoprotein Q (hnRNP Q), one of the heterogeneous nuclear ribonucleoproteins. This protein has been implicated in mRNA processing and translocation. In two individuals, reduced protein product was reported [Shafiq et al 2024].

Mechanism of disease causation. The majority of variants result in loss of function. Missense variants in key protein domains, including RNA recognition motifs (RRMs), and nonsense or frameshift variants in the penultimate/last exon that may escape nonsense-mediated decay have been observed but have not been functionally assessed.

Author Notes

Professor Meena Balasubramanian is an academic clinical geneticist based in Sheffield. Her work in genomic medicine focuses on identifying novel genomic approaches to pediatric rare diseases, international rare disease cohorts, and developing novel therapeutic targets, including antisense oligonucleotide (ASO) and adeno-associated virus serotype 9 (AAV9) therapies for conditions such as osteogenesis imperfecta and rare pediatric neurodevelopmental disorders (NDDs). She established her lab working on zebra fish disease models for rare diseases and has published more than 140 principal author publications and textbooks. Prof Balasubramanian has also authored patient information guides for organizations including Unique (www.rarechromo.org) and the Brittle Bone Society.

The Balasubramanian Lab at Sheffield works on translational projects focused on collagen and genes associated with rare NDDs (e.g., HNRNPs and ASXL3). Her group has published the largest clinical cohorts for numerous genes associated with rare NDDs, including HNRNPU, ASXL3, TAOK1, SIN3A, IQSEC2, YWHAG, and ZMYND11. She has also written definitive expert literature reviews (GeneReviews/Orphanet/NORD) for ASXL3, HNRNPU, and SIN3A.

Her leadership roles include Clinical Director of Research at Sheffield Children's Hospital and Academic Vice President for the Clinical Genetics Society. She also serves on the Medical Advisory Boards for BetterFuture4U, Brittle Bone Society, and the HNRNP Family Foundation.

Jennifer Bain, MD, PhD, is an associate professor of neurology and pediatrics at Columbia University Medical Center. She is a board-certified neurologist with special certification in Child Neurology. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and hypoxic ischemia encephalopathy. She currently works as a physician-scientist at Columbia University specializing in general pediatric neurology with expertise in neurodevelopment, behavioral neurology, and autism. Her clinical research has focused on studying the genetics of NDDs including autism and cerebral palsy. She is the residency program director for child neurology. She serves as site principal investigator on several precision therapeutic clinical trials for Angelman syndrome, GRIN disorders, and a variety of other rare NDDs, including HNRNPH2-NDD. She has authored peer-reviewed manuscripts, book chapters, and GeneReviews for HNRNPH2- and MED13L-related disorders. She works closely with several patient advocacy groups and researchers to continuously move forward in the understanding of the developing brain.

Madelyn Gillentine, PhD, is the scientific director of the HNRNP Family Foundation. She is a Clinical Genomics Scientist at Baylor Genetics and has experience identifying and characterizing rare genetic NDDs utilizing whole exome/genome sequencing data. Her early research focused on induced pluripotent stem cell modeling of 15q13.3 deletion and duplication syndromes. Her current research focuses on HNRNP-NDDs, particularly characterizing novel disorders and working with other laboratories performing functional studies. She has published multiple peer-reviewed manuscripts focused on HNRNP-NDDs. Dr Gillentine works closely with patient advocacy groups, researchers, clinicians, and Simons Searchlight to further understand the clinical and molecular underpinnings of rare NDDs.

Drs Gillentine, Balasubramanian, and Bain are actively involved in clinical research regarding individuals with SYNCRIP-NDD. They would be happy to communicate with individuals who have any questions regarding diagnosis of SYNCRIP-NDD or other considerations.

Contact Dr Gillentine to inquire about review of SYNCRIP variants of uncertain significance.

Acknowledgments

Prof Balasubramanian and Drs Gillentine and Bain would like to thank all the families and their clinicians who have so far contributed to ongoing SYNCRIP research, and the HNRNP Family Foundation for all their help and contribution in understanding more about the natural history of this condition.

Revision History

• 19 May 2026 (sw) Review posted live
• 13 January 2026 (mb) Original submission

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