Phenotypes for disease #05165 (CCTRCT (cataract, congenital (CCTRCT)))

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000051168 nuclear cataract; microcornea; likely dominant inheritance - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065031
0000051169 nuclear, lamellar cataract, posterior capsule opacity - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065032
0000051170 coralliform cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065033
0000051171 total cataract; amblyopia, convergent squint, all other measurements within normal range - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065034
0000051172 subcapsular, lamellar, y-sutural cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065035
0000051173 nuclear and y-sutural cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065036
0000051174 nuclear, lamellar cataract; intermittent divergent squint - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065037
0000051175 R: nuclear cataract; L: subcapsular cataract; iris slightly atrophic (more R than L) - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065038
0000051176 Spoke-like, nuclear component, subcapsular, lamellar cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065039
0000051177 nuclear, lamellar cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065040
0000051178 R: total cataract, L: central and posterior cataract; Posterior lenticonus, amblyopia and secondary glaucoma - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065041
0000051179 total cataract; horizontal manifest latent nystagmus - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065042
0000051180 cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065043
0000051181 lamellar cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065044
0000051182 lamellar, sutural cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065045
0000051183 nuclear cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065046
0000051184 cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065047
0000051185 R: nuclear, sutural, posterior plaque cataract; R: PFV, microphthalmia, horizontal jerk nystagmus, right divergent squint, strabismus; mild microcephaly, developmental delay, hypotonia, up-slanted and long palpebral fissures, small tapered fingers - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065048
0000051186 nuclear cataract; bilateral microphthalmia, convergent squint, low-frequency multiplanar nystagmus, R scalloped pupil, roving eye movements, pupils difficult to dilate, no recordable VEP response; mild microcephaly and LD - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065049
0000051187 R: lamellar cataract; L: minimal changes; vitreous abnormality, optic nerve hypoplasia (worse in R), R divergent squint, R exotropia, very pale fundi, hypermetropia, bilateral abnormal hypoplastic discs, abnormal trafficking of vessels, lens subluxation, phacodonesis; hypotonia, small size, poor weight gain due to feeding problems, developmental delay, communication and comprehension limited (no speech at 6 yrs, uses symbols to communicate), hand flapping, unusual head shape, fine hair with unusual hairline and chaotic patterning, single palmar crease, unusual low columnar nose, down-slanted palpebral fissures, thin upper lip, contact dermatitis, diffuse cerebral and cerebella atrophy, and reduced white matter on MRI - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065050
0000051188 nuclear, cortical, lamellar cataract; watering eyes since birth; delayed speech and motor movements, developmental delay - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065051
0000051189 cataract; congenital nystagmus, strabismus, alternate large-angle squint; cardiomyopathy - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065052
0000051190 nuclear, lamellar cataract; developmental delay, spastic diplegia, cryptogenic neonatal liver cirrhosis - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065053
0000051191 cataract; macrocephaly - - Familial, autosomal dominant - - - - - Johan den Dunnen 00065054
0000051192 L: dense nuclear cataract; R: nuclear cataract, lamellar, posterior polar; L: hypoplastic iris, nystagmus; severe mental retardation - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065055
0000051193 posterior opacities; neurologic developmental delay, microcephaly - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065056
0000051404 congenital cataract, anterior segment mesenchymal dysgenesis - - Familial, autosomal dominant - - - - - Deepti Anand 00065078
0000051405 anterior segment mesenchymal dysgenesis - - Familial, autosomal dominant - - - - - Deepti Anand 00065077
0000051965 bilateral aphakia (HP:0007707), retinal dystrophic (HP:?), depressed retinal function (HP:?) - - Familial, autosomal recessive - - 00y06m - - Jamie Zeegers 00072260
0000051967 right eye aphakia (HP:0007707), right eye retinal detachment (HP:0000541), left eye revealed nothing remarkable (HP:?) - - Familial, autosomal recessive - - 00y16m - - Jamie Zeegers 00072262
0000051968 bilateral pseudophakia (HP:?), unremarkable retinal examination (HP:?) - - Familial, autosomal recessive - - 06y - - Jamie Zeegers 00072263
0000051969 no ocular abnormality (-HP:?), clinically insignificant fine opacities in the red reflect (HP:?) - - Familial, autosomal recessive - - 01y - - Jamie Zeegers 00072264
0000051970 visually insignificant lens opacities (HP:0000518), ophthalmic examination unremarkable (HP:?) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00072265
0000051972 congenital cataract (HP:0000519) - - Familial, autosomal recessive - - <01y - - Jamie Zeegers 00072268
0000051974 congenital cataract (HP:0000519) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00072269
0000052011 impaired visual acuity (HP:0030532), lens opacity (HP:0000518), opacity in the central nucleus region of both lenses (HP:0000518), Y-sutures were also involved with prominent opacity (HP:?), no systemic disease (-HP:?), no other ocular disease (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072342
0000052012 congenital cataract (HP:0000519) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072343
0000052013 congenital cataract (HP:0000519) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072345
0000052014 congenital cataract (HP:0000519) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072346
0000052015 congenital cataract (HP:0000519) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072347
0000052016 congenital cataract (HP:0000519) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072348
0000052021 bilateral opacification of the lens (HP:?), anterior axial embryonal nuclear cataract (HP:?), no pathological findings of the anterior or posterior chamber structures (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00072352
0000052024 lamellar (HP:0007971), visual acuity (HP:0030532) - - Familial, autosomal dominant - 00y00m - - - Jamie Zeegers 00072355
0000052025 visual acuity (HP:0030532), pulverulent (HP:0010693) - - Familial, autosomal dominant - 25y - - - Jamie Zeegers 00072356
0000052798 blurred vision (HP:0000622), poor eyesight (HP:?), ring with white particles (HP:?), no other eye discomfort (-HP:?) - - Familial, autosomal dominant - - 00y00m - - Jamie Zeegers 00073106
0000052799 nuclear opacities (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073107
0000052803 microphthalmia (HP:0000568), nystagmus (HP:0000639), amblyopia (HP:0000646), glaucoma (HP:0000501), esotropia (HP:0000565), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073113
0000052804 no microphthalmia (-HP:0000568), nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073115
0000052805 nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073116
0000052806 nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073118
0000052807 posterior subcapsular cataract (HP:0007787), bilateral opacification of the lens (-HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073120
0000052815 bilateral lamellar cataract (HP:0007971) - - Familial, autosomal dominant - 07y - - - Jamie Zeegers 00073134
0000052816 bilateral lamellar cataract (HP:0007971) - - Familial, autosomal dominant - 12y - - - Jamie Zeegers 00073136
0000052817 severe bilateral lamellar cataract (HP:0007971) - - Familial, autosomal dominant - 04y - - - Jamie Zeegers 00073138
0000052818 - - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073139
0000052819 bilateral lamellar cataract (HP:0007971), anterior cortical spokes (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073141
0000052821 no cataract (-HP:0000519) - - Familial, autosomal dominant - 20y - - - Jamie Zeegers 00073142
0000052834 membranous cataract (HP:0010922), strabismus (HP:0000486) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073165
0000052838 y-suture cataracts (HP:0008031) - - Familial, autosomal dominant - 00y06m - - - Jamie Zeegers 00073168
0000052839 y-suture cataracts (HP:0008031) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073169
0000052840 y-suture cataracts (HP:0008031) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073170
0000052841 y-suture cataracts (HP:0008031) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073171
0000052855 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant - 08y - - - Jamie Zeegers 00073184
0000052856 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant 68y - - - - Jamie Zeegers 00073186
0000052857 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant - 00y06m - - - Jamie Zeegers 00073189
0000052858 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant - 01y - - - Jamie Zeegers 00073190
0000052859 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant - 13y - - - Jamie Zeegers 00073191
0000052861 bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073192
0000053293 anterior polar cataract (HP:0001134) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00073555
0000053373 bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646) - - Familial, autosomal dominant - 00y03m - - - Jamie Zeegers 00073637
0000053374 bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646) - - Familial, autosomal dominant - 00y00m - - - Jamie Zeegers 00073638
0000053377 fix on light (HP:?), normal pupillary reactions (HP:?), abnormal red reflex (HP:?), left aphakic (HP:?) - - Familial, autosomal dominant 00y01m - - - - Jamie Zeegers 00073640
0000053378 bilateral involvement (HP:?), abnormal red reflex (HP:?), specks in the nucleus of the lens (HP:?), clear peripheral and intervening lens (HP:?) - - Familial, autosomal dominant 04y - - - - Jamie Zeegers 00073641
0000053379 bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073642
0000053380 bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073644
0000053381 bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073645
0000053382 bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073646
0000053384 bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073647
0000053406 cerulean cataract (HP:0007976), photophobia (HP:0000613), no visual acuity test abnormality (-HP:0030532) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073664
0000053407 cerebral palsy (HP:0100021), difficulty hearing (HP:?), development delay (HP:?), coralliform cateract (HP:0010921) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073665
0000053408 bilateral pseudophakia (HP:?) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073667
0000053410 cerulean cataract (HP:0007976), visual acuity test abnormality (HP:0030532) - - Familial, autosomal dominant - - - - - Jamie Zeegers 00073668
0000053427 congenital cataract (HP:0000519), microcornea (HP:0000482) - - Familial, autosomal dominant - - - - - Deepti Anand 00065094
0000053428 congenital cataract (HP:0000519), posterior subcapsular cataract (HP:0007787), anterior segment dysgenesis (HP:0007700), corneal opacity (HP:0007957) - - Familial, autosomal dominant - - - - - Deepti Anand 00065090
0000053429 congenital cataract (HP:0000519), microcornea (HP:0000482), corneal opacity (HP:0007957), irdocorneal adhesions, glaucoma (HP:0000501), nystagmus (HP:0000639) - - Familial, autosomal dominant - - - - - Deepti Anand 00065091
0000053430 congenital cataract (HP:0000519), nystagmus (HP:0000639) - - Familial, autosomal dominant - - - - - Deepti Anand 00065093
0000053431 congenital cataract (HP:0000519), corneal opacity (HP:0007957), anterior segment dysgenesis (HP:0007700) - - Familial, autosomal dominant - - - - - Deepti Anand 00065092
0000054210 cataracts included pulverulent embryonal cataract, pulverulent cortical opacities, dense posterior star-shaped subcapsular cataract with pulverulent opacities in the cortical and embryonal regions, and dense embryonal cataracts - - Familial, autosomal dominant - - - - - Johan den Dunnen 00074393
0000093253 see paper; ..., isolated congenital cataract, otherwise normal ophthalmologic and systemic examination; no evidence of cardiomyopathy, skeletal myopathy or lactic acidosis congenital cataract CTRCT38 Familial, autosomal recessive 17y - - - - Fowzan Alkuraya 00117865
0000157390 congenital cataract congenital heart defects profound infantile onset neurological impairment growth retardation congenital hypotonia deafness microcephaly facial dysmorphism - - Familial, autosomal recessive - - - - - Ronen Spiegel 00208776
0000277169 Nuclear cataract congenital cataract - Familial, autosomal dominant 13y - - - - LOVD 00383384
0000277170 Spot-like cataract in the peripheral area of the lens congenital cataract - Familial, autosomal dominant 35y - - - - LOVD 00383385
0000277171 Not determined Irregular spot-like cataract in the middle of the lens congenital cataract - Familial, autosomal dominant 3m - - - - LOVD 00383386
0000277172 Two round-shaped opacifications in the middle of the lens congenital cataract - Familial, autosomal dominant 14y - - - - LOVD 00383387
0000277173 Irregular nuclear cataract congenital cataract - Familial, autosomal dominant 22y - - - - LOVD 00383388
0000277174 Irregular nuclear cataract congenital cataract - Familial, autosomal dominant 53y - - - - LOVD 00383389
0000277175 Not determined Extensive opacification of the lens congenital cataract - Familial, autosomal dominant 4m - - - - LOVD 00383390
0000277176 Round-shaped opacification in the middle of the le congenital cataract - Familial, autosomal dominant 23y - - - - LOVD 00383391
0000278216 - Cataract - Familial, autosomal dominant - - - - - LOVD 00384431
0000278263 - Congenital cataract - Familial, autosomal dominant - - - - - LOVD 00384478
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