Autosomal recessive deafness-53 (DFNB53) is caused by homozygous mutation in the COL11A2 gene.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
6p21.32
Autosomal recessive deafness-53 (DFNB53) is caused by homozygous mutation in the COL11A2 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609706.1 | United Arab Emirates | Male | No | Yes | Hearing impairment; Delayed speech and l... Hearing impairment; Delayed speech and language development  | NM_080680.3:c.966dup | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | |
| 609706.2.1 | United Arab Emirates | Female | Yes | Yes | Moderate hearing impairment; Disproporti... Moderate hearing impairment; Disproportionate short-limb short stature; Mandibular aplasia; Postaxial polydactyly; Shortening of all distal phalanges of the fingers; Lower limb asymmetry; Broad toe; Pes planus; Secondary amenorrhea; Cone-shaped epiphysis; Fibular hypoplasia; Bilateral sensorineural hearing impairment | NM_080680.3:c.966dup | Homozygous | Autosomal, Recessive | Elsayed O and Al-Shamsi A. 2022; Vona et al. 2017 | Dual diagnosis of no... |