Phenotypes for disease #04212 (BBS (Bardet-Biedl syndrome (BBS)))

240 entries on 3 pages. Showing entries 1 - 100.
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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     
0000027426 - - - Unknown - - - - - Johan den Dunnen 00034031
0000027427 - - - Unknown - - - - - Johan den Dunnen 00034032
0000027428 - - - Unknown - - - - - Johan den Dunnen 00034033
0000027429 - - - Unknown - - - - - Johan den Dunnen 00034034
0000046380 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059888
0000046381 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059889
0000046382 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059890
0000046383 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059891
0000046384 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059892
0000046385 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059893
0000046386 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059894
0000046387 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00059895
0000046388 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00059896
0000046416 - - - Isolated (sporadic) - - - - - Julia Lopez 00059924
0000046664 - - - Isolated (sporadic) - - - - - Ivo F.A.C. Fokkema 00060174
0000046665 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060175
0000046666 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060176
0000046667 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060177
0000046669 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060179
0000046670 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060180
0000046671 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060181
0000046672 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060182
0000046673 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060183
0000046674 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060184
0000046675 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060185
0000046676 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060186
0000046677 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060187
0000046678 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060188
0000046679 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060189
0000046680 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060190
0000046681 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060191
0000046682 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060192
0000046683 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060193
0000046684 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060194
0000046685 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060195
0000046686 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060196
0000046687 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060197
0000046688 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060198
0000046689 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060199
0000046690 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060200
0000046691 - - - Unknown - - - - - Ivo F.A.C. Fokkema 00060201
0000046694 retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination - - Familial, autosomal recessive - - <10y - - María González-del Pozo 00060204
0000050416 CRD/RP, Polydactyly, Hypogonadism. Renal parenchymal disease; deceased due to renal failure. - - Familial, autosomal recessive 32y - - - - Muhammad Ajmal 00063828
0000050417 CRD/RP, Polydactyly, Hypogonadism, no renal disease - - Familial, autosomal recessive 40y - - - - Muhammad Ajmal 00063829
0000050421 CRD/RP, intellectual disability, hypogonadism, bilateral renal calculi, Speech disability - - Familial, autosomal recessive 45y - - - - Muhammad Ajmal 00063831
0000050422 CRD/RP, polydactyly, hypogonadism, developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes - - Familial, autosomal recessive 15y - - - - Muhammad Ajmal 00063832
0000050423 CRD/RP, polydactyly, obesity, intellectual disability, hypogonadism. Left kidney: focal caliectasis in upper and interpolar region. Elevated liver enzymes, hypodontia, speech disability, gynaecomastia. - - Familial, autosomal recessive 15y - - - - Muhammad Ajmal 00063833
0000050424 BBS-Like syndrome, CRD/RP, obesity, hypogonadism, intellectual disability, gynaecomastia, cerebral atrophy - - Familial, autosomal recessive 20y - - - - Muhammad Ajmal 00063834
0000050425 BBS-Like syndrome, CRD/RP, obesity, hypogonadism, irregular menstruation, severe depression and psychosis at 26 years - - Familial, autosomal recessive 25y - - - - Muhammad Ajmal 00063835
0000127884 - BBS - Familial, autosomal recessive - - - - - Dror Sharon 00155384
0000127889 - BBS - Familial, autosomal recessive - - - - - Dror Sharon 00155389
0000127890 - BBS - Familial, autosomal recessive - - - - - Dror Sharon 00155390
0000155597 best corrected visual acuity right, left eye (14y): 20/400, 20/600; anterior segment: normal; retinal exam (15y): macular atrophy, vessel attenuation, bone spicules; electroretinogram amplitude (1y): severe rod-cone dystrophy; neurological findings (13y): absent seizures, autism, normal brain magnetic resonance imaging, head circumference: 57 cm; kidney (age 13y): normal structure and function; liver (age 13y): fatty infiltration, normal transaminases; lipidsa (age 13y) cholesterol 6.4 mmol/l (elevated); triglyceride: 8.63 mmol/L (elevated); heart: situs solitus, levocardia; spleen: mild splenomegaly; digits: postaxial polydactyly in 3 limbs; weight: BMI 38.9; menarche: 13y; development: delayed; other: recurrent ear infections, strabism Bardet-Biedl syndrome BBS-1 Familial, autosomal recessive - - - - anna_tracewska Johan den Dunnen 00207813
0000162060 - Bardet-Biedl syndrome BBS-11 Isolated (sporadic) - - - - - Johan den Dunnen 00213607
0000203690 height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening Bardet-Biedl syndrome BBS-7 Familial, autosomal recessive 15y - - - - Sadaf Naz 00265912
0000203691 height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening Bardet-Biedl syndrome BBS-7 Familial, autosomal recessive 08y - - - - Sadaf Naz 00265913
0000254018 see paper; ... Bardet-Biedl Syndrome - Unknown 9y - - - - LOVD 00358803
0000254019 see paper; ... Bardet-Biedl Syndrome - Unknown 10y - - - - LOVD 00358804
0000254020 see paper; ... Bardet-Biedl Syndrome - Unknown 17y - - - - LOVD 00358805
0000254021 see paper; ... Bardet-Biedl Syndrome - Unknown 8y - - - - LOVD 00358806
0000254022 see paper; ... Bardet-Biedl Syndrome - Unknown 5y - - - - LOVD 00358807
0000254023 see paper; ... Bardet-Biedl Syndrome - Unknown 11y - - - - LOVD 00358808
0000254024 see paper; ... Bardet-Biedl Syndrome - Unknown 6y - - - - LOVD 00358809
0000254025 see paper; ... Bardet-Biedl Syndrome - Unknown 9y - - - - LOVD 00358810
0000254026 see paper; ... Bardet-Biedl Syndrome - Unknown 4y - - - - LOVD 00358811
0000254027 see paper; ... Bardet-Biedl Syndrome - Unknown 21y - - - - LOVD 00358812
0000254028 see paper; ... Bardet-Biedl Syndrome - Unknown 12y - - - - LOVD 00358813
0000254029 see paper; ... Bardet-Biedl Syndrome - Unknown 17y - - - - LOVD 00358814
0000254030 see paper; ... Bardet-Biedl Syndrome - Unknown 36y - - - - LOVD 00358815
0000254031 see paper; ... Bardet-Biedl Syndrome - Unknown 4y - - - - LOVD 00358816
0000254032 see paper; ... Bardet-Biedl Syndrome - Unknown - - - - - LOVD 00358817
0000254033 see paper; ... Bardet-Biedl Syndrome - Unknown - - - - - LOVD 00358818
0000254034 see paper; ... Bardet-Biedl Syndrome - Unknown 4y - - - - LOVD 00358819
0000273211 HP:0000662 HP:0000613 HP:0001129 HP:0000639 HP:0001483, HP:0000551, HP:0001288, HP:0000007, HP:0032122, HP:0001162, HP:0001513 Bardet-Biedl syndrome (BBS) - Familial, autosomal recessive - - - - - Jinu Han 00378069
0000273411 HP:0000662 HP:0000613 HP:0001129 HP:0000639 HP:0000551, HP:0001288, HP:0000365, HP:0000007, HP:0001513, HP:0010442 Bardet-Biedl syndrome (BBS) - Familial, autosomal recessive - - - - - Jinu Han 00379538
0000273510 HP:0000662, HP:0001133, HP:0000639, HP:0000551, HP:0000365, HP:0000007, HP:0001513, HP:0010442 Bardet-Biedl syndrome (BBS) - Familial, autosomal recessive - - - - - Jinu Han 00379666
0000296704 see paper; ... Bardet-Biedl syndrome BBS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00404115
0000296706 see paper; ... Bardet-Biedl syndrome BBS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00404117
0000296707 see paper; ... Bardet-Biedl syndrome BBS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00404118
0000296708 see paper; ... Bardet-Biedl syndrome BBS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00404119
0000296709 see paper; ... Bardet-Biedl syndrome BBS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00404120
0000304592 walked after the age of 2y; no polydactyly but a syndactyly between the second and the third toes; retinitis pigmentosa suspected at 3y7m months because of hemeralopia, confirmed at 8y on ophthalmologic examination; early overweight, at last medical examination -18y:weight: 116.5 kg (>+3SD) for 163 cm ( -2SD); learning difficulties that implied the need for special education; asthma; X-rays of the skeleton: no anomaly of the thorax, no polydactyly or brachydactyly; auditory evoked potential and audiogram: no deafness; cerebral magnetic resonance imaging and electroencephalogram: normal; renal ultrasound: no renal or hepatic anomalies, normal renal and hepatic functions and no diabetes - Bardet-Biedl syndrome Familial, autosomal recessive 18y - - early developmental delay - LOVD 00412600
0000304593 delayed development and obesity; 2y: hypogonadism with micropenis and bilateral cryptorchidism; 3y: retinitis pigmentosa; 13y weight: 111 kg (>+3SD) for 157 cm (+0.5SD), orthopedic and respiratory complications; X-rays of the skeleton: postaxial polydactyly of the hand and the preaxial polydactyly of the feet with duplication of the metatarsus and the phalanges without other abnormality; brain magnetic resonance imaging, abdominal ultrasound, and biological renal, hepatic and pancreatic functions: normal - Bardet-Biedl syndrome Familial, autosomal recessive 13y - 0m postaxial polydactyly of the right hand and bilateral preaxial polydactyly of the feet - LOVD 00412601
0000304595 retinal disease: retinitis pigmentosa with atrophic changes in the macula; polydactyly/skeletal anomalies: bilateral post-axialcutaneous polydactyly; liver disease: elevated transaminases; obesity (BMI = 43.2); other features: hypercholesterolemia, pancreatitis, speech abnormalities in childhood (initial consonant omission) - Bardet-Biedl syndrome (BBS) Familial, autosomal recessive - - - - - LOVD 00412603
0000304596 retinal disease: retinitis pigmentosa with granularities and cysts in the macula; polydactyly/skeletal anomalies: not detected; liver disease: elevated transaminases; obesity (BMI = 36.9); other features: speech abnormalities in childhood (initial consonant omission) - Bardet-Biedl syndrome (BBS) Familial, autosomal recessive - - - - - LOVD 00412604
0000304652 14y: best corrected visual acuity right/left eye: 0.6 / 0.6; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; additional ocular findings: strabismus both eyes; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 23y: best corrected visual acuity right/left eye: 0.1 / 0.1; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation - Bardet-Biedl syndrome Familial, autosomal recessive 23y - - - - LOVD 00412660
0000304661 strabismus, uncorrected visual acuity right, left eye: light perception, hand motion; retinitis pigmentosa - nyctalopia 10y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented areas, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 145 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 37.1; genu valgum; varum - Bardet-Biedl syndrome Familial, autosomal recessive 34y - - - - LOVD 00412669
0000304662 strabismus, best corrected visual acuity right, left eye: 6/12, 6/12; retinitis pigmentosa - nyctalopia 15y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract and nuclear, punctate; intellectual disability: moderate; short stature: yes, 157 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 31.6; genu valgum; varum - Bardet-Biedl syndrome Familial, autosomal recessive 28y - - - - LOVD 00412670
0000304663 strabismus, uncorrected visual acuity: 6/60, 6/120; retinitis pigmentosa - nyctalopia 13y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 163 cm; weight (kg): 98; obesity - calculated BMI kg/m2: 36.9; genu valgum; varum - Bardet-Biedl syndrome Familial, autosomal recessive 24y - - - - LOVD 00412671
0000304664 best corrected visual acuity right, left eye: 6/10, 6/10; retinitis pigmentosa - nyctalopia 7y; right eye impression of a few bone spicules in mid-periphery, left eye: no cooperation; intellectual disability: moderate; short stature: yes, 155 cm; weight (kg): 92; obesity - calculated BMI kg/m2: 38.3; genu valgum; varum - Bardet-Biedl syndrome Familial, autosomal recessive 17y - - - - LOVD 00412672
0000304665 best corrected visual acuity: no light perception; retinitis pigmentosa - nyctalopia 20y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse bone spicules, severe maculopathy, mild cortical cataract; intellectual disability: severe; short stature: yes, 146 cm; weight (kg): 86.6; obesity - calculated BMI kg/m2: 40.6; genu valgum: unknown; varum - Bardet-Biedl syndrome Familial, autosomal recessive 48y - - - - LOVD 00412673
0000304666 strabismus, best corrected visual acuity right, left eye: hand motion 15cm, light perception; retinitis pigmentosa - nyctalopia 28y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse coarse pigment clumps &bone spicules, macular edema, mild posterior subcapsular cataract; intellectual disability: severe; short stature: yes, 149 cm; weight (kg): 62; obesity - calculated BMI kg/m2: no, but overweight - 27.9; genu valgum; varum - Bardet-Biedl syndrome Familial, autosomal recessive 47y - - - - LOVD 00412674
0000304667 uncorrected visual acuity: 6/21, 6/21; retinitis pigmentosa - nyctalopia 25y; bone spicules in mid-periphery, granular appearance in the posterior pole; intellectual disability: severe; short stature: yes, 132 cm; weight (kg): 57.8; obesity - calculated BMI kg/m2: 33.2; genu valgum: unknown; varum - Bardet-Biedl syndrome Familial, autosomal recessive 29y - - - - LOVD 00412675
0000304668 suspected retinitis pigmentosa - fixes and follows objects, small optic disk with mild pallor, grayish retinal discoloration in mid-periphery; intellectual disability: moderate; short stature: yes, percentile 3-5% (129 cm; weight (kg): 29.5 (percentile 25-50%); obesity - calculated BMI kg/m2: BMI-for-age at the 68th percentile; genu valgum; varum - Bardet-Biedl syndrome Familial, autosomal recessive 10y - - - - LOVD 00412676
0000304669 absence of intellectual disability and attention-deficit/hyperactivity disorder; best corrected visual acuity right, left eye: 20/40, 20/25; fundus: pale optic disc and no cystoid macular edema bilaterally; bilateral bone-spicule intraretinal pigment migration mainly in the superior and nasal fields, with peripheral retinal atrophy; macular spectral domain optical coherence tomography: peripheral thinning of the retina, affecting mainly the outer nuclear layer, disruption of the ellipsoid zone line in the periphery, while it was conserved in the foveal area; foveal border flattened and enlarged; fundus autofluorescence: peripheral atrophy along with the presence of a hyperautofluorescent ring in the foveal area commonly observed in retinitis pigmentosa patients; scotopic rod-specific and maximal responses full field electroretinogram: undetectable in both eyes; photopic 30 Hz-flicker amplitudes markedly subnormal bilaterally - retinitis pigmentosa Familial, autosomal recessive 11y - 9y night vision problems - LOVD 00412677
0000308969 49y: based on four major features (retinitis pigmentosa, obesity, kidney failure, cognitive disability) and one minor feature (brachydactyly), diagnosed with BBS; 53y: end-stage renal failure; severe visual impairment (light perception, dense cataracts, retinal dystrophy), obesity (BMI: 37.7), behavioral dysfunction, learning difficulties (understood simple orders but never learned to read or write) and brachydactyly - Bardet-Biedl syndrome Familial, autosomal recessive 53y - - - - LOVD 00417483
0000308992 obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; atopy; no BBS facies; congenital heart disease: unknown; fatty liver: unknown; amenorrhea - Bardet-Biedl syndrome (BBS) Familial, autosomal recessive - - - - - LOVD 00417512
0000308993 obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; deafness; no anosmia; atopy; BBS facies; congenital heart disease: hypoplastic left ventricle; fatty liver: unknown; hypogenitalism - Bardet-Biedl syndrome (BBS) Familial, autosomal recessive - - - - - LOVD 00417513
0000308994 obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; hypogenitalism - Bardet-Biedl syndrome (BBS) Familial, autosomal recessive - - - - - LOVD 00417514
0000308995 obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; hypogenitalism - Bardet-Biedl syndrome (BBS) Familial, autosomal recessive - - - - - LOVD 00417515
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