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Article

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

American journal of human genetics - 3 Sept 2015

Tanaka Akemi J, Cho Megan T, Millan Francisca, Juusola Jane, Retterer Kyle, Joshi Charuta, Niyazov Dmitriy, Garnica Adolfo, Gratz Edward, Deardorff Matthew, Wilkins Alisha, Ortiz-Gonzalez Xilma, Mathews Katherine, Panzer Karin, Brilstra Eva, van Gassen Koen L I, Volker-Touw Catharina M L, van Binsbergen Ellen, Sobreira Nara, Hamosh Ada, McKnight Dianalee, Monaghan Kristin G, Chung Wendy K

Abstract excerpt

Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in s...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26299366
DOI: 10.1016/j.ajhg.2015.07.014
PMCID: PMC4564988

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26299366-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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