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IDDABS

Chr 7AR

pseudouridine synthase 7

Also known as: IDDABS

NCBI Gene: 54517 OMIM: 618342

The protein functions as a tRNA pseudouridine synthase that modifies tRNA at position 13 and regulates hematopoietic stem cell differentiation and mesoderm development in the nucleus. Biallelic mutations cause intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, following autosomal recessive inheritance. This condition affects both neurodevelopment and growth, with microcephaly indicating early developmental brain involvement.

OMIM ResearchSummary from RefSeq, OMIM

Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with abnormal behavior, microcephaly, and short statureMIM #618342

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

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