Phenotypes for disease #03028 (LGSS (syndrome, Legius (LGSS)), OMIM:611431)

203 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     
0000154016 >6 CALMs / bilateral inguinal freckling / acrocyanosis - - Unknown - 2y6m - - - Ludwine Messiaen 00205875
0000154017 6 CALM / posteriorly rotated ears / ptosis left eye / no freckling / normal speech and motor development - - Familial - 4y - - - Ludwine Messiaen 00205876
0000154018 20 CALM / bilateral axillary and inguinal freckling / learning disability: dyslexia / dysgraphia / attention deficit / cephalalgia - - Familial - 14y 10y - - Ludwine Messiaen 00205877
0000154019 >6 CALM / no freckling / hyperactive - - Familial - 6y - - - Ludwine Messiaen 00205878
0000154020 >6 CALM / axillary and inguinal freckling / clinodactyly 5th finger - - Familial - 3y6m - - - Ludwine Messiaen 00205879
0000154021 >6 CALMs larger than 5 mm diameter / some inguinal lentigines / normal cognitive development - - Isolated (sporadic) - 10y - - - Ludwine Messiaen 00205880
0000154022 >6 CALMs / faint L axillary freckling / 1R axillary freckle / family history unknown - - Unknown - 7y6m - - - Ludwine Messiaen 00205881
0000154030 >6 CALMs / bilateral axillary freckling / familial - - Familial - 7y6m - - - Ludwine Messiaen 00205889
0000154032 >6 CALM / bilateral axillary and inguinal freckling / ADHD - - Familial - 7y6m - - - Ludwine Messiaen 00205891
0000154033 - - - Familial - - - - - Ludwine Messiaen 00205892
0000154034 20typical CALMs / possible Noonan phenotype with coarse features and short stature - - Unknown - 12y - - - Ludwine Messiaen 00205893
0000154036 13 CALM / no freckling / monoblastic acute leukemia / learning disability - - Familial - 4y - - - Ludwine Messiaen 00205895
0000154037 - - - Unknown - - - - - Ludwine Messiaen 00205896
0000154038 CALM present / punctate dots in right groin - - Familial - 38y 30y - - Ludwine Messiaen 00205897
0000154039 >6 CALMs / R inguinal freckling / hypertelorism - - Unknown - 6y - - - Ludwine Messiaen 00205898
0000154040 >6 CALMs / bilateral inguinal and axillary freckling / ADD / unknown family history - - Unknown - 8y - - - Ludwine Messiaen 00205899
0000154041 - - - Unknown - - - - - Ludwine Messiaen 00205900
0000154042 multiple CALMs and macrocephaly - - Familial - 12m - - - Ludwine Messiaen 00205901
0000154043 >5 CALs - - Familial - - - - - Beatrice Parfait 00205902
0000154044 >5 CALs and Learning disabilities - - Isolated (sporadic) - - - - - Beatrice Parfait 00205903
0000154045 > 5 CALs - - Isolated (sporadic) - - - - - Beatrice Parfait 00205904
0000154047 22 CALM / thoracic freckling / speech delay / meatal stenosis / hypertelorism / mild hearing loss Lear / low posterior hairline / mild pterygium colli / pectus carinatum/excavatum / motor and language delay / ADHD - - Isolated (sporadic) - 9y6m - - - Ludwine Messiaen 00205906
0000154048 >6 CALMs / 2 freckles in R axilla - - Familial - 7y6m - - - Ludwine Messiaen 00205907
0000154049 10-20 CALM / subtle axillary and inguinal freckling / learning disabilities requiring intervention - - Unknown - 12y - - - Ludwine Messiaen 00205908
0000154050 >5 CALM / inguinal freckling / hypertelorism / dyslexia / congenital hypothyroidism - - Unknown - 12y - - - Ludwine Messiaen 00205909
0000154051 >6 CALMs / freckling R neck / learning disability - - Unknown - 12y - - - Ludwine Messiaen 00205910
0000154052 >6 CALMs / bilateral inguinal and axillary freckling - - Unknown - 7y - - - Ludwine Messiaen 00205911
0000154053 - - - Unknown - - - - - Ludwine Messiaen 00205912
0000154054 >6 CALMs / freckling - - Isolated (sporadic) - 34y - - - Ludwine Messiaen 00205913
0000154055 14 CALM / 1 CALM in left axilla / hyperactive / mild pectus excavatum / mild retrognatia / simple ears - - Unknown - 2y - - - Ludwine Messiaen 00205914
0000154056 no CALM / no freckling / multiple lipomas - - Familial - 60y - - - Ludwine Messiaen 00205915
0000154057 14 CALM / no freckling / hyperactive - - Isolated (sporadic) - 4y - - - Ludwine Messiaen 00205916
0000154058 >6 CALM / bilateral axillary freckling - - Familial - 9y - - - Ludwine Messiaen 00205917
0000154059 >5 CALM / no freckling / generalized epilepsy since age 39-y / Parkinson disease since age 45-y - - Unknown - 51y - - - Ludwine Messiaen 00205918
0000154060 >6 CALMs / adopted - - Unknown - 7m - - - Ludwine Messiaen 00205919
0000154061 - - - Unknown - - - - - Ludwine Messiaen 00205920
0000154062 - - - Unknown - - - - - Ludwine Messiaen 00205921
0000154063 >6 CALMs / left inguinal freckling - - Unknown - 12m - - - Ludwine Messiaen 00205922
0000154064 > 5 CALs - - Familial - - - - - Beatrice Parfait 00205923
0000154065 >6 CALMs / familial - - Familial - 4y - - - Ludwine Messiaen 00205924
0000154068 >6 CALMs / bilateral axillary and inguinal freckling - - Unknown - 5y - - - Ludwine Messiaen 00205927
0000154071 8 CALMs / mild thoracic scoliosis / abnormal development with heart murmur / possible Noonan phenotype with short stature and midface hypoplasia. Familial - - Unknown - 5y6m - - - Ludwine Messiaen 00205930
0000154072 >5 CALMs / no freckling / hypertelorism / downslanting palpebral fissues / ptosis / low implanted postriorly rotated ears - - Isolated (sporadic) - 15y - - - Ludwine Messiaen 00205931
0000154073 multiple CALMs - - Unknown - 13m - - - Ludwine Messiaen 00205932
0000154074 >6 CALMs / bilateral axillary and inguinal freckling / learning disability / unknown FH - - Unknown - 8y - - - Ludwine Messiaen 00205933
0000154075 >6 CALMs / bilateral axillary freckling - - Unknown - 18m - - - Ludwine Messiaen 00205934
0000154076 >6 CAL-spots - - Unknown - 6y6m - - - Ludwine Messiaen 00205935
0000154078 >6 CALMs - - Unknown - 9m - - - Ludwine Messiaen 00205937
0000154080 CALM present / freckling present / macrocephaly - - Familial - 68y - - - Ludwine Messiaen 00205939
0000154081 - - - Unknown - - - - - Ludwine Messiaen 00205940
0000154082 >6 typical CALMsmild bilateral inguinal freckling / minimal bil ax freckling / 1 subcutaneous lump on R torso / LD (psychiatric disease) - - Isolated (sporadic) - 17y - - - Ludwine Messiaen 00205941
0000154083 >6 typical CALMs / BI&A / familial - - Familial - 13y - - - Ludwine Messiaen 00205942
0000154084 >6 typical CALMs. Father and paternal grandmother reported to have multiple CALMs - - Familial - 18m - - - Ludwine Messiaen 00205943
0000154085 >6 CALM / no freckling - - Unknown - 10y - - - Ludwine Messiaen 00205944
0000154086 11 CALM / bilateral axillary and inguinal freckling / cephalgia - - Familial - 14y - - - Ludwine Messiaen 00205945
0000154087 >5 CALM / no freckling / 5 spontaneous abortions / 1 still birth at 6m pregnancy / unilateral postaxial polydactyly foot - - Familial - 36y - - - Ludwine Messiaen 00205946
0000154088 >5 CALM / axillary and inguinal freckling / hypertelorism / pectus excavatum / delayed motor milestones / non-verbal learning disorder - - Unknown - 11y - - - Ludwine Messiaen 00205947
0000154089 >6 CALMs / no freckling / normal development - - Unknown - 46y - - - Ludwine Messiaen 00205948
0000154090 >6 CALMs / abnormal development / learning difficulties - - Familial - 9y - - - Ludwine Messiaen 00205949
0000154091 >6 typical CALMs / BI&A / familial - - Familial - 8y - - - Ludwine Messiaen 00205950
0000154092 multiple CALMs - - Familial - 1y - - - Ludwine Messiaen 00205951
0000154094 CALM present / no freckling - - Familial - 26y - - - Ludwine Messiaen 00205953
0000154095 - - - Unknown - - - - - Ludwine Messiaen 00205954
0000154096 6 irregular CALMs and BI&A freckling / familial - - Familial - 18y - - - Ludwine Messiaen 00205955
0000154097 >6 CALMs - - Unknown - 11y - - - Ludwine Messiaen 00205956
0000154098 >15 CALM / 1 in left axilla and 1 in right inguinal region / pectus excavatum - - Isolated (sporadic) - 4y - - - Ludwine Messiaen 00205957
0000154099 numerous CALMs / axillary and inguinal freckling; mutation also present in mother with numerous CALMs - - Familial - 7y - - - Ludwine Messiaen 00205958
0000154100 - - - Unknown - - - - - Ludwine Messiaen 00205959
0000154102 - - - Unknown - - - - - Ludwine Messiaen 00205961
0000154104 also found in the proband's mother with 1 hyperpigmented region on the abdomen - - Familial - - - - - Ludwine Messiaen 00205963
0000154105 7 CALMs family history unknwon - - Unknown - 4y6m - - - Ludwine Messiaen 00205964
0000154106 - - - Unknown - - - - - Ludwine Messiaen 00205965
0000154107 >6 CALMs larger than 15mm diameter / axillary freckling / normal cognitive development / no scoliosis. Mother and older brother have multiple CALMs but no molecular testing available - - Unknown - 14y - - - Ludwine Messiaen 00205966
0000154108 >5 CALM / unknown status for freckling / learning difficulties / desmoid tumor abdominal wall - - Unknown - 40y - - - Ludwine Messiaen 00205967
0000154109 >6 CALMs / freckling on L side of neck - - Isolated (sporadic) - 4y - - - Ludwine Messiaen 00205968
0000154110 >6 CALs / L inguinal and axillary freckling. sporadic - - Isolated (sporadic) - 20y - - - Ludwine Messiaen 00205969
0000154111 - - - Unknown - - - - - Ludwine Messiaen 00205970
0000154112 - - - Unknown - - - - - Ludwine Messiaen 00205971
0000154113 >6 CALM / bilateral inguinal freckling / 2-3 freckles in left axilla / large right temporal venous anomaly in brain / progressive dystonia of unexplained etiology - - Familial - 17y - - - Ludwine Messiaen 00205972
0000154114 >6 CALMs / mother with multiple CALMs also carries this mutation - - Unknown - 1y - - - Ludwine Messiaen 00205973
0000154115 >6 CALMs / right inguinal freckling. - - Unknown - 3y - - - Ludwine Messiaen 00205974
0000154116 >6 CALM / bilateral axillary and inguinal freckling / freckling right neck / macrocephaly - - Familial - 6y6m - - - Ludwine Messiaen 00205975
0000154117 - - - Unknown - - - - - Ludwine Messiaen 00205976
0000154118 no CALM / no freckling / low implanted ears / prooptosis / coarse facial features - - Familial - 58y - - - Ludwine Messiaen 00205977
0000154119 - - - Unknown - - - - - Ludwine Messiaen 00205978
0000154120 >6 CALMs / bilateral inguinal and axillary freckling / scoliosis - - Unknown - 39y - - - Ludwine Messiaen 00205979
0000154121 > 5 CALs and Lentigines - - Isolated (sporadic) - - - - - Beatrice Parfait 00205980
0000154122 multiple CALMs / ADD / area of telangiectasia over right thigh and LD / FH?? - - Unknown - 13y - - - Ludwine Messiaen 00205981
0000154123 >6 CALMs / fading mongolian spot; 35-yo father >6 CALMs and bilateral inguinal freckling - - Unknown - 21m - - - Ludwine Messiaen 00205982
0000154124 >6 CALM, mild freckling, macrocephaly, 3 lipomas - - Familial - 66y - - - Ludwine Messiaen 00205983
0000154125 39-y, 7 CALM, 1 freckle, Noonan-like face, loose integument, 2 lipomas - - Familial - 39y - - - Ludwine Messiaen 00205984
0000154126 - - - Unknown - - - - - Ludwine Messiaen 00205985
0000154127 39-y, >5 CALM, no freckling, mild synophris, normal development, migraine, some skintags in neck and face - - Familial - 39y - - - Ludwine Messiaen 00205986
0000154128 several small CALM / mild axillary freckling - - Familial - 30y - - - Ludwine Messiaen 00205987
0000154129 >6 CALMs - - Unknown - 18y - - - Ludwine Messiaen 00205988
0000154130 >6 CALMs / 1 axillary freckle - - Unknown - 4y - - - Ludwine Messiaen 00205989
0000154131 >6 CALMs / bilateral inguinal and axillary freckling / mother CALMs only - - Unknown - 12y - - - Ludwine Messiaen 00205990
0000154132 >6 CALMs - - Isolated (sporadic) - 5y - - - Ludwine Messiaen 00205991
0000154133 - - - Unknown - - - - - Ludwine Messiaen 00205992
0000154134 > 5 CALs and Developmental delay - - Familial - - - - - Beatrice Parfait 00205993
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