[…] frequent (99-80%) HP:0001513 2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407 3 choroideremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001139 4 chorioretinal degeneration 33 hallmark (90%) HP:0200065 5 strabismus [malacards.org]

Showing of 17 80%-99% of people have these symptoms Chorioretinal degeneration 0200065 Choroideremia 0001139 Obesity Having too much body fat 0001513 Sensorineural hearing impairment 0000407 5%-29% of people have these symptoms Strabismus Cross-eyed Squint [rarediseases.info.nih.gov]

[…] arteriosus EEG abnormality Feeding difficulties in infancy Sensorineural hearing impairment Precocious puberty Abnormality of cardiovascular system morphology Rare Symptoms - Less than 30% cases Cryptorchidism Abnormality of the dentition Hypertelorism Strabismus [mendelian.co]

X-linked lymphoproliferative syndrome Bilateral generalized polymicrogyria Early infantile epileptic encephalopathy 25 Duane syndrome type 1 Glycogen storage disease type 12 Rapid-onset dystonia-parkinsonism Limb-girdle muscular dystrophy type 1B Ptosis strabismus [checkrare.com]

Rutherfurd type 1 family Autosomal dominant Charcot-Marie-Tooth disease type 2709 Oculogastrointestinal muscular dystrophy 1 family99945 2L 1 family 1876 Pili torti - onychodysplasia 1 family Autosomal dominant limb-girdle muscular dystrophy 2890 Ptosis - strabismus [fliphtml5.com]

loss of vision due to degeneration of the choroid and retina. [morebooks.de]

loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 X-linked inheritance 0001417 X-linked recessive inheritance 0001419 Showing of 17 Last [rarediseases.info.nih.gov]

CHOROIDEREMIA Choroideremia is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina. CLINICAL DESCRIPTION Choroideremia occurs almost exclusively in males. [retinaaustraliansw.com.au]

Abstract An interstitial deletion of the proximal part of the long arm of the X chromosome was found in two brothers both suffering from choroideremia, congenital deafness and mental retardation. [wwww.unboundmedicine.com]

Results SNP array analysis detected an 8.05 Mb deletion in the long arm of the X chromosome at Xq21.1-21.31 (Fig. 3 ) in both the patient and his mother. [molecularcytogenetics.biomedcentral.com]

This indicates, that there is more than one deafness gene on the proximal long arm of the X-chromosome (Reardon et al. 1991), or alternatively, that allelic mutations cause different phenotypes. [docslide.com.br]

HP:0000486 6 intellectual disability 33 HP:0001249 7 hearing impairment 33 HP:0000365 8 global developmental delay 33 HP:0001263 9 progressive visual loss 33 HP:0000529 10 nyctalopia 33 HP:0000662 11 conductive hearing impairment 33 HP:0000405 12 chorioretinal [malacards.org]

Showing of 17 80%-99% of people have these symptoms Chorioretinal degeneration 0200065 Choroideremia 0001139 Obesity Having too much body fat 0001513 Sensorineural hearing impairment 0000407 5%-29% of people have these symptoms Strabismus Cross-eyed Squint [rarediseases.info.nih.gov]

However, her results were normal and there was no evidence suggesting that she might exhibit choroideremia, or hearing impairment in the future. [molecularcytogenetics.biomedcentral.com]

Type II is characterized by moderate hearing impairment and typical RP. Type Ill is characterized by progressive hearing impairment and typical of RP. [jwen.com]

Diseases related with Obesity and Conductive hearing impairment In the following list you will find some of the most common rare diseases related to Obesity and Conductive hearing impairment that can help you solving undiagnosed cases. [mendelian.co]

By generating non-functional products, mutations in this gene often lead to DFNX2, which is characterized by conductive and sensorineural progressive hearing loss and pathognomonic temporal bone deformity, including dilatation of the inner auditory canal [molecularcytogenetics.biomedcentral.com]

Accordingly, our patient showed inner ear deformity with short base turn of the cochlea, unclear division within the cochlea and the absence of the modiolus, which is a typical consequence of POU3F4 deletion. [molecularcytogenetics.biomedcentral.com]

He has a narrow forehead, slightly drooping eyelids, short palpebral fissures, and prominent ears (Fig. 1 ). His IQ level is below 40, according to the Wechsler Intelligence Scale test, and his general cognitive ability is also low. [molecularcytogenetics.biomedcentral.com]

Atypical scarring of skin Keratoconus Hyperinsulinemia Abnormal electroretinogram Abnormality of retinal pigmentation Type II diabetes mellitus Hypoplasia of penis Ophthalmoplegia Clinodactyly Abnormal heart morphology Pain insensitivity Small hand Narrow [mendelian.co]