Phenotypes for disease #00173 (SLOS (Smith-Lemli-Opitz syndrome (SLOS)), OMIM:270400)

460 entries on 5 pages. Showing entries 1 - 100.
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Phenotype details     

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Individual ID     
0000000935 - Familial - - - - 2-3 toe syndactyly; hexadactyly cholesterol: 490 ug/ml, 7DHC: 67 ug/ml - - - Division of Human Genetics, Innsbruck 00001956
0000000936 - Familial - - - - ascertainment clinical presentation cholesterol: 240 ug/ml, 7DHC: 196 ug/ml - - 22 Division of Human Genetics, Innsbruck 00001957
0000000937 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly 7DHC: 162.3 ug/ml, 8DHC: 85.6 ug/ml - 00y08m 25 Division of Human Genetics, Innsbruck 00001958
0000000938 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 950 ug/ml, 7DHC: 89 ug/ml, 8DHC: 72 ug/ml - - 20 Division of Human Genetics, Innsbruck 00001959
0000000939 - Familial - - - - 2-3 toe syndactyly; hexadactyly; microcephaly; agenesis of corpus callosum 7DHC: 112 ug/ml, 8DHC: 82 ug/ml - - 39 Division of Human Genetics, Innsbruck 00001960
0000000940 - Familial - - - - ascertainment clinical presentation cholesterol: 1550 ug/ml, 7DHC: 100 ug/ml - 04y - Division of Human Genetics, Innsbruck 00001961
0000000941 - Familial - - - - 2-3 toe syndactyly - - - 5 Division of Human Genetics, Innsbruck 00001962
0000000942 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00001963
0000000943 - Familial - - - - ascertainment clinical presentation; hexadactyly; microcephaly 7DHC: 156 ug/ml, 8DHC: 45.7 ug/ml - - 25 Division of Human Genetics, Innsbruck 00001964
0000000944 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly; Hexadactyly; hypoplasia of the corpus callosum cholesterol: 910 ug/ml, 7DHC: 430 ug/ml - - 25 Division of Human Genetics, Innsbruck 00001965
0000000945 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly 7DHC: 191 ug/ml, 8DHC: 94 ug/ml - - 50 Division of Human Genetics, Innsbruck 00001966
0000000946 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 342 ug/ml, 7DHC: 100 ug/ml, 8DHC: 94 ug/ml - - 35 Division of Human Genetics, Innsbruck 00001967
0000000947 - Familial - - - - - cholesterol: 340 ug/ml, 7DHC: 357 ug/ml, 8DHC: 140 ug/ml - - - Division of Human Genetics, Innsbruck 00001968
0000000948 - Familial - - - - 2-3 toe syndactyly cholesterol: 115.2 ug/ml, 7DHC: 77 ug/ml, 8DHC: 100 ug/ml - - - Division of Human Genetics, Innsbruck 00001969
0000000949 - Familial - - - - ascertainment clinical presentation cholesterol: 280 ug/ml, 7DHC: 440 ug/ml - 02y - Division of Human Genetics, Innsbruck 00001970
0000000950 - Familial - - - - ascertainment clinical presentation; postaxial polydactyly, 2-3 toe syndactyly, hypospadia, decreased head circumference elevated precursors of cholesterol, cholesterol: 227 ug/ml, 7DHC: 69 ug/ml, 8DHC: 69 ug/ml - 00y02m 10 Division of Human Genetics, Innsbruck 00001971
0000000951 - Unknown - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 447 ug/ml, 7DHC: 180 ug/ml, 8DHC: 150 ug/ml - - 20 Division of Human Genetics, Innsbruck 00001972
0000000952 - Unknown - - - - ascertainment clinical presentation cholesterol: 140 ug/ml, 7DHC: 83 ug/ml, 8DHC: 54 ug/ml - - 50 Division of Human Genetics, Innsbruck 00001973
0000000953 - Familial - - - - diagnosis fetal - - <00y00m00d - Division of Human Genetics, Innsbruck 00001974
0000000954 - Familial - - - - diagnosis fetal; ascertainment clinical presentation; postaxial polydactyly of left hand and both feet, 2-4 toe syndactyly, hypospadia, multiple heart defects, lung hypoplasia, hypertelorism, facial dysmorphisms, - - <00y00m00d 70 Division of Human Genetics, Innsbruck 00001975
0000000955 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly; hexadactyly cholesterol: 2620 ug/ml, 7DHC: 0.37 ug/ml - - 30 Division of Human Genetics, Innsbruck 00001976
0000000956 - Familial - - - - ascertainment clinical presentation; severe cholesterol: 292 ug/ml, increased cholesterol precursors, 7DHC: 269 ug/ml - 10y > 59 Division of Human Genetics, Innsbruck 00001977
0000000957 - Unknown - - - - ascertainment family analysis; facial similarities to her brother, Head circumfrence < 1 SD, hyperactive, aggressive, cleft soft palate, pyloric stenosis cholesterol: 1769 ug/ml, 7DHC: 63 ug/ml - 02y - Division of Human Genetics, Innsbruck 00001978
0000000958 - Familial - - - - ascertainment clinical presentation; microcephaly, developmental delay,minor facial anomalies, minimal 2-3 toe syndactyly high triglycerides, slightly elevated 7-DHC, cholesterol: 1130 ug/ml, 7DHC: 20 ug/ml - 05y 0 Division of Human Genetics, Innsbruck 00001979
0000000959 - Familial - - - - ascertainment family analysis; failure to thrive, mild splenomegaly, moderate global cognitive delay, chronic severe behavioral problems, attention deficit disorder, 2, 3 toe syndactyly 7DHC: 25 ug/ml - 12y 5 Division of Human Genetics, Innsbruck 00001980
0000000960 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00001981
0000000961 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly, polydactyly, heart anomaly, severe hypospadia, mikrocephalie cholesterol: 31.05 ug/ml, 7DHC: 1631 ug/ml - - 25 Division of Human Genetics, Innsbruck 00001982
0000000962 - Familial - - - - ascertainment family analysis; 2-3 toe syndactyly; microcepahly, cholesterol: 27.33 ug/ml, 7DHC: 2649 ug/ml - 00y06m 15 Division of Human Genetics, Innsbruck 00001983
0000000963 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly, cholesterol: 815 uM, 7DHC: 662 uM - - 40 Division of Human Genetics, Innsbruck 00001984
0000000964 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly; microcephaly - - - 80 Division of Human Genetics, Innsbruck 00001985
0000000965 - Unknown - - - - ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly - - - 100 Division of Human Genetics, Innsbruck 00001986
0000000966 - Unknown - - - - diagnosis fetal - - <00y00m00d - Division of Human Genetics, Innsbruck 00001987
0000000967 - Unknown - - - - neonatal cholestasis, microcephaly, micrognathia, a small nose with anteverted nares, ambiguous genitalia, cleft palate, simian line, (bilateral) 2-3 toe syndactyly cholesterol: 210 ug/mL, 7DHC: 567 ug/mL - 00y04m 55 Division of Human Genetics, Innsbruck 00001988
0000000968 - Familial - - - - 2-3 toe syndactyly cholesterol: 380 ug/ml, 7DHC: 224 ug/ml - - 50 Division of Human Genetics, Innsbruck 00001989
0000000969 - Familial - - - - diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly - - <00y00m00d 71 Division of Human Genetics, Innsbruck 00001990
0000000970 - Familial - - - - - cholesterol: 1000 ug/ml, 7DHC: 150 ug/ml, 8DHC: 117 ug/ml - - 15 Division of Human Genetics, Innsbruck 00001991
0000000971 - Familial - - - - - - - - 5 Division of Human Genetics, Innsbruck 00001992
0000000972 - Unknown - - - - - - - - 10 Division of Human Genetics, Innsbruck 00001993
0000000973 - Familial - - - - ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease very high 7-DHC - 35y 15 Division of Human Genetics, Innsbruck 00001994
0000000974 - Familial - - - - ascertainment clinical presentation cholesterol: 778 ug/ml, 7DHC: 89 ug/ml - - 25 Division of Human Genetics, Innsbruck 00001995
0000000975 - Familial - - - - ascertainment clinical presentation; cleft palate, polydactyly, 2-3 toe syndactyly cholesterol: 287 ug/ml, 7DHC: 217 ug/ml - 00y07m 43 Division of Human Genetics, Innsbruck 00001996
0000000976 - Familial - - - - ascertainment clinical presentation; microcephaly, 2-3 toe syndactyly, multiple facial dysmorphisms, cataracts, hexadactyly, cleft hard palate, progressive liver disease, ambigious genitalia cholesterol: 60 ug/ml, 7DHC: 164 ug/ml, 8DHC: 119 ug/ml - - 60 Division of Human Genetics, Innsbruck 00001997
0000000977 - Familial - - - - ascertainment clinical presentation 7DHC: 2.6 ug/ml - - 33 Division of Human Genetics, Innsbruck 00001998
0000000978 - Familial - - - - 2-3 toe syndactyly - - - - Division of Human Genetics, Innsbruck 00001999
0000000979 - Unknown - - - - diagnosis fetal - - <00y00m00d 90 Division of Human Genetics, Innsbruck 00002000
0000000980 - Familial - - - - 2-3 toe syndactyly, blond hair 7DHC: 184.6 ug/ml, 8DHC: 267 ug/ml - - 35 Division of Human Genetics, Innsbruck 00002001
0000000981 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 346 ug/ml, 7DHC: 99 ug/ml, 8DHC: 50 ug/ml - - 19 Division of Human Genetics, Innsbruck 00002002
0000000982 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 292 ug/ml, 7DHC: 117 ug/ml, 8DHC: 113 ug/ml - - 22 Division of Human Genetics, Innsbruck 00002003
0000000983 - Familial - - - - diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 200 ug/ml, 7DHC: 168 ug/ml, 8DHC: 85 ug/ml - <00y00m00d 40 Division of Human Genetics, Innsbruck 00002004
0000000984 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002005
0000000985 - Familial - - - - ascertainment clinical presentation; head circumference < 3 perc., seizures, 2-3 toe syndactyly, hypoplasia of lung, simple hypospadia cholesterol: 400 ug/ml, 7DHC: 296 ug/ml - 00y05m 25 Division of Human Genetics, Innsbruck 00002006
0000000986 - Familial - - - - ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, 2-3 toe syndactyly, pyloric stenosis cholesterol: 770 ug/ml, 7DHC: 60 ug/ml, 8DHC: 41 ug/ml - 10y 16 Division of Human Genetics, Innsbruck 00002007
0000000987 - Familial - - - - ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, cataracts, 2-3 toe syndactyly, clubfoot, pyloric stenosis cholesterol: 926 ug/ml, 7DHC: 140 ug/ml, 8DHC: 100 ug/ml - 15y 37 Division of Human Genetics, Innsbruck 00002008
0000000988 - Familial - - - - ascertainment clinical presentation; head circumference < -3 SD, ptosis, anteverted nares, 2-3 toe syndactyly, clubfoot, pyloric stenosis abnormal sterols, cholesterol: 386 ug/ml, 7DHC: 76 ug/ml, 8DHC: 66 ug/ml - 14y - Division of Human Genetics, Innsbruck 00002009
0000000989 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002010
0000000990 - Familial - - - - no 2-3 toe syndactyly - - - 12 Division of Human Genetics, Innsbruck 00002011
0000000991 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002012
0000000992 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 140 ug/ml, 7DHC: 74 ug/ml, 8DHC: 95 ug/ml - - 15 Division of Human Genetics, Innsbruck 00002013
0000000993 - Familial - - - - - - - - 25 Division of Human Genetics, Innsbruck 00002014
0000000994 - Familial - - - - diagnosis fetal - - <00y00m00d - Division of Human Genetics, Innsbruck 00002015
0000000995 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002016
0000000996 - Familial - - - - diagnosis fetal; 2-3 toe syndactyly, failure to thrive - - <00y00m00d - Division of Human Genetics, Innsbruck 00002017
0000000997 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002018
0000000998 - Familial - - - - ascertainment clinical presentation; head circumference < 2 perc., 2-3 toe syndactyly, high arched palate with posterior cleft, micrognathia, wide nasal root, simple hypospadia cholesterol: 196 ug/ml, 7DHC: 116 ug/ml, 8DHC: 60 ug/ml - 03y08m 20 Division of Human Genetics, Innsbruck 00002019
0000000999 - Unknown - - - - - - - 08y - Division of Human Genetics, Innsbruck 00002020
0000001000 - Unknown - - - - - - - 20y - Division of Human Genetics, Innsbruck 00002021
0000001001 - Unknown - - - - - - - 09y - Division of Human Genetics, Innsbruck 00002022
0000001002 - Unknown - - - - died 2006 - - - - Division of Human Genetics, Innsbruck 00002023
0000001003 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002024
0000001004 - Unknown - - - - - - - - - Division of Human Genetics, Innsbruck 00002025
0000001005 - Familial - - 00y00m01d - - - - - - Division of Human Genetics, Innsbruck 00002026
0000001006 - Familial - - - - ascertainment clinical presentation; seizures, bifid uvula, minimal 2-3 toe syndactyly, pyloric stenosis cholesterol: 590 ug/ml, 7DHC: 291 uMol/l - 01y 15 Division of Human Genetics, Innsbruck 00002027
0000001007 - Familial - - - - ascertainment clinical presentation; corpus callosum hypoplasia, polydactyly cholesterol: 289 ug/ml, 7DHC: 169 ug/ml, 8DHC: 187 ug/ml - - 45 Division of Human Genetics, Innsbruck 00002028
0000001008 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly - - - 45 Division of Human Genetics, Innsbruck 00002029
0000001009 - Familial - - - - ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly cholesterol: 123 ug/ml, 7DHC: 50 ug/ml - 00y10m 25 Division of Human Genetics, Innsbruck 00002030
0000001010 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 251 ug/ml, 7DHC: 171 ug/ml, 8DHC: 123 ug/ml - - 35 Division of Human Genetics, Innsbruck 00002031
0000001011 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 361 ug/ml, 7DHC: 90 ug/ml, 8DHC: 91 ug/ml - - 25 Division of Human Genetics, Innsbruck 00002032
0000001012 - Familial - - - - ascertainment clinical presentation; no 2-3 toe syndactyly cholesterol: 531 ug/ml, 7DHC: 485 ug/ml, 8DHC: 406 ug/ml - - 25 Division of Human Genetics, Innsbruck 00002033
0000001013 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 340 ug/ml, 7DHC: 150 ug/ml, 8DHC: 220 ug/ml - - 10 Division of Human Genetics, Innsbruck 00002034
0000001014 - Familial - - - - ascertainment clinical presentation cholesterol: 540 ug/ml, 7DHC: 140 ug/ml, 8DHC: 170 ug/ml - - 10 Division of Human Genetics, Innsbruck 00002035
0000001015 - Familial - - - - ascertainment clinical presentation cholesterol: 330 ug/ml, 7DHC: 95 ug/ml - - 50 Division of Human Genetics, Innsbruck 00002036
0000001016 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 120 ug/ml, 7DHC: 50 ug/ml - - 60 Division of Human Genetics, Innsbruck 00002037
0000001017 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002038
0000001018 - Familial - - - - ascertainment clinical presentation; 2-3 toe syndactyly cholesterol: 1140 ug/ml, 7DHC: 118 ug/ml - - 8 Division of Human Genetics, Innsbruck 00002039
0000001019 - Familial - - - - 2-3 toe syndactyly cholesterol: 360 ug/ml, 7DHC: 740 ug/ml - - 8 Division of Human Genetics, Innsbruck 00002040
0000001020 - Familial - - - - ascertainment unknown cholesterol: 730 ug/ml, 7DHC: 95 ug/ml, 8DHC: 110 ug/ml - - - Division of Human Genetics, Innsbruck 00002041
0000001021 - Familial - - - - - - - - - Division of Human Genetics, Innsbruck 00002042
0000001022 - Familial - - - - - cholesterol: 3510 uM, 7DHC: 378 uM, 8DHC: 420 uM - - 39 Division of Human Genetics, Innsbruck 00002043
0000001023 - Familial - - - - - cholesterol: 210 uM, 7DHC: 1219 uM, 8DHC: 825 uM - - 72 Division of Human Genetics, Innsbruck 00002044
0000001024 - Familial - - - - 2-3 toe syndactyly, seizures, hypoplasia of the corpus callosum cholesterol: 290 ug/ml, 7DHC: 87 ug/ml - 15y 10 Division of Human Genetics, Innsbruck 00002045
0000001025 - Familial - - - - ascertainment clinical presentation; polydactyly, 2-3 toe syndactyly, simple hypospadia 7DHC: 336 ug/ml - 05y 11 Division of Human Genetics, Innsbruck 00002046
0000001026 - Familial - - - - ascertainment clinical presentation cholesterol: 1496 ug/ml, 7DHC: 196 ug/ml, 8DHC: 189 ug/ml - - 11 Division of Human Genetics, Innsbruck 00002047
0000001027 - Familial - - - - ascertainment clinical presentation - - 02y n.d. Division of Human Genetics, Innsbruck 00002048
0000001028 - Familial - - - - ascertainment clinical presentation; head circumference < -3 SD, severe hypotonia, anteverted nares, coloboma, 2-3 toe syndactyly, polydactyly, reflux vesicoureteral, simple hypospadia cholesterol: 564 ug/ml, 7DHC: 78 ug/ml, 8DHC: 47 ug/ml - 06y 25 Division of Human Genetics, Innsbruck 00002049
0000001029 - Unknown - - - - ascertainment clinical presentation; mild - - 20y mild Division of Human Genetics, Innsbruck 00002050
0000001030 - Unknown - - - - - abnormal sterols, cholesterol: 1150 mg/l, 7DHC: 28 mg/l, 8DHC: 94 mg/l - 00y00m05d 9 Division of Human Genetics, Innsbruck 00002051
0000001031 - Unknown - - - - diagnosis fetal; ascertainment clinical presentation - - <00y00m00d 72 Division of Human Genetics, Innsbruck 00002052
0000001032 - Unknown - - - - ascertainment clinical presentation - - - 56 Division of Human Genetics, Innsbruck 00002053
0000001033 - Unknown - - - - ascertainment clinical presentation; mild cholesterol: 563 mg/dl, 7DHC: 84 mg/dl, 8DHC: 82 mg/dl - 00y00m02d 6 Division of Human Genetics, Innsbruck 00002054
0000001034 - Unknown - - - - ascertainment clinical presentation; mild abnormal sterols, cholesterol: 1272 mg/dl, 7DHC: 259 mg/dl, 8DHC: 134 mg/dl - 35y mild Division of Human Genetics, Innsbruck 00002055
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