Disease #05411 (CRDHL (dystrophy, cone-rod, hearing loss (CRDHL)), OMIM:617236)

Official abbreviation CRDHL
Name dystrophy, cone-rod, hearing loss (CRDHL)
OMIM ID 617236
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 6
Associated with 1 gene CEP78
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00155411 - Sharon, submitted - M no Israel Iraq;Jewish - 0 - - CRDHL - CEP78 CEP78 1 1 Dror Sharon
00155412 - Sharon, submitted - M no Israel Jewish-Oriental - 0 - - CRDHL - CEP78 CEP78 2 1 Dror Sharon
00155413 - Sharon, submitted - M yes Israel Jewish-Oriental - 0 - - CRDHL - CEP78 CEP78 1 2 Dror Sharon
00269283 Fam2PaII2 PubMed: Ascari 2020 2-generation family, 1 affected, unaffected parents M - Belgium - - 0 - - CRDHL best‐corrected visual acuity hand movements at 1m/hand movements at 1m; Goldmann visual fields oculus dexter et sinister moderately constricted peripheral limits, extensive central, absolute scotoma; fundus imaging oculus dexter et sinister limited outer retinal atrophy in macula up to area nasal to optic disc, severely reduced vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse hypo‐ and hyperautofluorescence; hyperautofluorescent ring around central macula, mottled hypoautofluorescence of retina nasal to optic disc; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐tenth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia - CEP78 1 1 Elfride De Baere
00269284 Fam3PatII1 PubMed: Ascari 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - - 0 - - CRDHL best‐corrected visual acuity 0.2/0.2; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister: mildly reduced rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; acquired, severe color vision deficiency; asthenoteratozoospermia - CEP78 2 2 Elfride De Baere
00332412 - - - F - Belgium - - 0 - - CRDHL - CEP78 CEP78 2 1 Elfride De Baere
00332413 - - - F - Denmark - - - - - CRDHL - CEP78 CEP78 2 1 Elfride De Baere
00332414 - - - M yes Turkey - - - - - CRDHL - CEP78 CEP78 1 1 Elfride De Baere
00332416 Fam3PatII2 PubMed: Ascari 2020 brother M - Germany - - 0 - - CRDHL best‐corrected visual acuity 0.63/0.63; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister normal rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; normal color vision; diabetes type 1 - CEP78 2 1 Elfride De Baere
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