{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T05:21:08Z","timestamp":1764480068696,"version":"3.46.0"},"reference-count":11,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009687","name":"Wroclaw Medical University","doi-asserted-by":"crossref","award":["SUBK.C190.24.066","Sub.c.190.25.010"],"award-info":[{"award-number":["SUBK.C190.24.066","Sub.c.190.25.010"]}],"id":[{"id":"10.13039\/501100009687","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100023181","name":"Medical Research Agency","doi-asserted-by":"crossref","award":["2023\/ABM\/02\/00003-00"],"award-info":[{"award-number":["2023\/ABM\/02\/00003-00"]}],"id":[{"id":"10.13039\/501100023181","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background:\u00a0SPATA5L1-related neurodevelopmental disorder is a recently described condition characterized by psychomotor delay, sensorineural hearing loss, and variable motor dysfunction. Because only a few cases have been reported, the full phenotypic spectrum remains poorly defined. Expanding clinical characterization is crucial for improving early diagnosis and targeted management. Case Presentation: We report a 24-month-old female with compound heterozygous SPATA5L1 variants c.1918C&gt;T (p.Arg640Ter) and c.2066G&gt;T (p.Gly689Val). She presented with global psychomotor delay, bilateral sensorineural hearing loss, strabismus, and craniofacial dysmorphism. Brain MRI showed cortical and white matter atrophy, delayed myelination, and a thin corpus callosum. Vojta neurodevelopmental assessment demonstrated an 11-month motor delay, abnormal responses in all seven Vojta postural reactions, and persistent primitive reflexes. Early EEG recordings were without significant changes, whereas abnormalities emerged later in the clinical course. Genetic testing confirmed the variants in trans. Management and Outcomes: Early rehabilitation including reflex locomotion therapy was initiated. The persistence of primitive reflexes, central hypotonia, and pathological postural reactions provided a coherent neuromotor profile and indicated a high vulnerability to atypical motor development, and do not rule out the possibility of later evolution toward a spastic\u2013dystonic motor pattern. These findings, combined with neuroimaging abnormalities, refined the patient\u2019s neuromotor phenotype and guided individualized therapeutic planning. Conclusions: This case expands the clinical and neurodevelopmental spectrum associated with SPATA5L1 variants and highlights the diagnostic value of integrating genomic sequencing with structured motor assessments. Early, multidimensional evaluation may improve recognition of rare neurodevelopmental disorders and support more precise prognostication and rehabilitation strategies.<\/jats:p>","DOI":"10.3390\/jcm14238442","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T11:19:51Z","timestamp":1764328791000},"page":"8442","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants\u2014Expanding Phenotype"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5131-8540","authenticated-orcid":false,"given":"Artur","family":"Polczyk","sequence":"first","affiliation":[{"name":"Medical Education and Simulation Laboratory, University Centre of Physiotherapy and Rehabilitation, Faculty of Physiotherapy, Wroclaw Medical University, 50-368 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9809-0707","authenticated-orcid":false,"given":"Ewelina","family":"Wola\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Clinical Physiotherapy and Rehabilitation, University Centre of Physiotherapy and Rehabilitation, Faculty of Physiotherapy, Wroclaw Medical University, 50-368 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6214-0322","authenticated-orcid":false,"given":"Anna","family":"Zimny","sequence":"additional","affiliation":[{"name":"Department of General and Interventional Radiology and Neuroradiology, Wroclaw Medical University, 50-368 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6641-6776","authenticated-orcid":false,"given":"Agnieszka","family":"Zubkiewicz-Kucharska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Faculty of Medicine, Wroclaw Medical University, 50-367 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3461-193X","authenticated-orcid":false,"given":"Mateusz","family":"Biela","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Faculty of Medicine, Wroclaw Medical University, 50-367 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Pawelak","sequence":"additional","affiliation":[{"name":"Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-9549","authenticated-orcid":false,"given":"Robert","family":"\u015amigiel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Faculty of Medicine, Wroclaw Medical University, 50-367 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2006","DOI":"10.1016\/j.ajhg.2021.08.003","article-title":"Bi-allelic variants in SPATA5L1 cause a neurodevelopmental disorder featuring sensorineural hearing loss, intellectual disability, cerebral palsy, and epilepsy","volume":"108","author":"Richard","year":"2021","journal-title":"Am. 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