Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: EXTL3
A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095).
Craniosynostosis has been recorded as part of the phenotype in OMIM (MIM #617425).
Sources: LiteratureCreated: 20 Jul 2023, 12:18 p.m. | Last Modified: 20 Jul 2023, 12:21 p.m.
Panel Version: 4.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Publications
Phenotypes for gene: EXTL3 were changed from craniosynostosis, MONDO:0015469 to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
gene: EXTL3 was added gene: EXTL3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 35080095; 36980886 Phenotypes for gene: EXTL3 were set to craniosynostosis, MONDO:0015469 Review for gene: EXTL3 was set to RED