ClinVar Genomic variation as it relates to human health

This interstitial deletion is expected to cause phenotypic and/or developmental abnormalities. Individuals with interstitial 13q deletions may present with a wide spectrum of features which may include intellectual disability, developmental delay, learning disabilities, hypotonia, growth delay, craniofacial dysmorphisms, structural brain anomalies, heart defects, and hearing loss. Also, heterozygous or homozygous pathogenic variants in EDNRB (OMIM 131244) can cause Waardenburg syndrome type 4A , the clinical features of which may include pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease. Some individuals with deletions encompassing the 13q22.2 region and involve EDNRB have some features of Waardenburg syndrome, but not the full Waardenburg phenotype. In addition, there are several genes within the deleted region that have been associated with clinical disorders in OMIM: CLN5 (OMIM 608102): autosomal recessive neuronal ceroid lipofuscinosis-5; SLITRK6 (OMIM 609681): autosomal recessive deafness and myopia; FBXL3 (OMIM 605653): autosomal dominant intellectual developmental disorder with short stature, facial anomalies, and speech defects; POU4F1 (OMIM 601632): autosomal dominant childhood-onset ataxia, intention tremor, and hypotonia syndrome. References and resources: Kirchhoff et al. Am J Med Genet A. 2009;149A(5):894-905. PMID:19363806. Huang et al. Gene. 2012;498(2):308-10. PMID: 22366306. Quelin et al. Eur J Med Genet. 2009;52:41-46. PMID: 19022413. Tuysuz et al. Am J Med Genet A. 2009;149A(10):2290-5. PMID: 19764031. Unique Leaflet on 13q distal interstitial deletions (https://rarechromo.org/media/information/Chromosome%2013/13q%20distal%20interstitial%20deletions%20FTNW.pdf)