Phenotypes for disease #05596 (XP (xeroderma pigmentosum (XP)))

101 entries on 2 pages. Showing entries 1 - 100.
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0000173476 xeroderma pigmentosum, group G XPG The patient, a 22-year-old female, was first observed to be sun sensitive when she was a newborn. She had diffuse erythema and desquamation after short sun exposure, and it recurred after varying degrees of sun exposure. She presented mild erythema and desquamation on the face, mainly on the forehead, malar region and nasal dorsum. Additionally, she had tiny vesicles on her lower lip. In addition, there were multiple solar lentigines on sun-exposed areas of the body, including the face, neck, shoulders, and upper back. She also reported having photophobia with redness and watering of the eyes during sun exposure. Familial, autosomal recessive - - 22y - Tiago de Souza 00230992
0000173477 xeroderma pigmentosum, group G XPG The patient, a 17-year-old male, presented with slight erythema and desquamation on the face, especially on the nasal dorsum. There were also multiple solar lentigines on his central face and a few lentigines on the upper trunk. He first exhibited sun sensitivity as a newborn with the same clinical manifestations as his sister and also reported episodes of photophobia. Neither sibling had a history of skin cancer or skin cancer precursors. They never had lesions surgically removed. Familial, autosomal recessive - - 17y - Tiago de Souza 00230993
0000231959 xeroderma pigmentosum - progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y Familial, autosomal recessive 37y - - - Johan den Dunnen 00306118
0000232018 xeroderma pigmentosum XPF - Familial, autosomal recessive - - - - Johan den Dunnen 00306174
0000232019 xeroderma pigmentosum XPF see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy Familial, autosomal recessive 62y - - - Johan den Dunnen 00306175
0000232023 mild xeroderma pigmentosum XPF - Familial, autosomal recessive - - - - Johan den Dunnen 00306177
0000232024 mild xeroderma pigmentosum XPF - Familial, autosomal recessive 12y - - - Johan den Dunnen 00306178
0000232025 xeroderma pigmentosum XPF severe XP with neurodegeneratio Familial, autosomal recessive - - - - Johan den Dunnen 00306179
0000232026 xeroderma pigmentosum XPF mild XP, late onset neurodegeneration Familial, autosomal recessive - - - - Johan den Dunnen 00306180
0000232027 xeroderma pigmentosum XPF see paper; ... Familial, autosomal recessive 42y - - - Johan den Dunnen 00306181
0000232028 xeroderma pigmentosum XPF severe XP, neurodegeneration, no skin cancer Familial, autosomal recessive 29y - - - Johan den Dunnen 00306182
0000326370 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 3-5; unscheduled DNA synthesis 3 Familial, autosomal recessive 8y 5y - - Johan den Dunnen 00436190
0000326371 xeroderma pigmentosa XPA sunburn severity score 3; 8y-first cancer, squamous cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4-5; Familial, autosomal recessive 8y 7y - - Johan den Dunnen 00436191
0000326372 xeroderma pigmentosa XPA sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 4; unscheduled DNA synthesis 1 Familial, autosomal recessive 15y 4y - - Johan den Dunnen 00436192
0000326373 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 2 Familial, autosomal recessive 15y 8y - - Johan den Dunnen 00436193
0000326374 xeroderma pigmentosa XPA sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 5 Familial, autosomal recessive 19y 12y - - Johan den Dunnen 00436194
0000326375 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 0 Familial, autosomal recessive 23y <1y - - Johan den Dunnen 00436195
0000326376 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 5; unscheduled DNA synthesis 8 Familial, autosomal recessive 24y 22y - - Johan den Dunnen 00436196
0000326377 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 8; unscheduled DNA synthesis 8 Familial, autosomal recessive 33y 13y - - Johan den Dunnen 00436197
0000326378 xeroderma pigmentosa XPA sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; Familial, autosomal recessive 7y 6y - - Johan den Dunnen 00436198
0000326379 xeroderma pigmentosa XPA sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 20 Familial, autosomal recessive 8y 4y - - Johan den Dunnen 00436199
0000326380 xeroderma pigmentosa XPA sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 3 Familial, autosomal recessive 19y 7y - - Johan den Dunnen 00436200
0000326381 xeroderma pigmentosa XPA sunburn severity score 1; 30y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 12 Familial, autosomal recessive 31y 31y - - Johan den Dunnen 00436201
0000326382 xeroderma pigmentosa XPA sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; Familial, autosomal recessive 34y 33y - - Johan den Dunnen 00436202
0000326383 xeroderma pigmentosa XPA sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; Familial, autosomal recessive 35y 34y - - Johan den Dunnen 00436203
0000326384 xeroderma pigmentosa XPA sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; Familial, autosomal recessive 36y 35y - - Johan den Dunnen 00436204
0000326385 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 Familial, autosomal recessive 37y 31y - - Johan den Dunnen 00436205
0000326386 xeroderma pigmentosa XPA sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 5 Familial, autosomal recessive 44y 39y - - Johan den Dunnen 00436206
0000326387 xeroderma pigmentosa XPA sunburn severity score 0; 46y-first cancer, melanoma in situ; 10 malignant melanomas; 35 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 13 Familial, autosomal recessive 80y 67y - - Johan den Dunnen 00436207
0000326388 xeroderma pigmentosa XPB sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 1; unscheduled DNA synthesis 14 Familial, autosomal recessive 35y 28y - - Johan den Dunnen 00436208
0000326389 xeroderma pigmentosa XPB sunburn severity score 2; 22y-first cancer, malignant melanoma; 1 malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 21 Familial, autosomal recessive 55y 45y - - Johan den Dunnen 00436209
0000326390 xeroderma pigmentosa XPC sunburn severity score 0; 4y-first cancer, basal cell carcinoma; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 8 Familial, autosomal recessive 5y 5y - - Johan den Dunnen 00436210
0000326391 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 1 Familial, autosomal recessive 6y 1y - - Johan den Dunnen 00436211
0000326392 xeroderma pigmentosa XPC sunburn severity score 0; 3y-first cancer, squamous cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 20 Familial, autosomal recessive 6y 3y - - Johan den Dunnen 00436212
0000326393 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; Familial, autosomal recessive 7y 3y - - Johan den Dunnen 00436213
0000326394 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 14 Familial, autosomal recessive 7y 4y - - Johan den Dunnen 00436214
0000326395 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 9 Familial, autosomal recessive 9y 7y - - Johan den Dunnen 00436215
0000326396 xeroderma pigmentosa XPC sunburn severity score 0; 6y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 5 Familial, autosomal recessive 9y 5y - - Johan den Dunnen 00436216
0000326397 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 1; unscheduled DNA synthesis 7 Familial, autosomal recessive 10y 2y - - Johan den Dunnen 00436217
0000326398 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 11 Familial, autosomal recessive 10y 6y - - Johan den Dunnen 00436218
0000326399 xeroderma pigmentosa XPC sunburn severity score 0; 6y-first cancer, squamous cell carcinoma; no malignant melanoma; 3 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 Familial, autosomal recessive 10y 2y - - Johan den Dunnen 00436219
0000326400 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 10 Familial, autosomal recessive 11y 3y - - Johan den Dunnen 00436220
0000326401 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 28 Familial, autosomal recessive 12y 5y - - Johan den Dunnen 00436221
0000326402 xeroderma pigmentosa XPC sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 15 Familial, autosomal recessive 13y 6y - - Johan den Dunnen 00436222
0000326403 xeroderma pigmentosa XPC sunburn severity score 0; 8y-first cancer, basal cell carcinoma; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 10 Familial, autosomal recessive 12y 4y - - Johan den Dunnen 00436223
0000326404 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; Familial, autosomal recessive 15y 4y - - Johan den Dunnen 00436224
0000326405 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 21 Familial, autosomal recessive 16y 9y - - Johan den Dunnen 00436225
0000326406 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 6 Familial, autosomal recessive 17y 7y - - Johan den Dunnen 00436226
0000326407 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 12 Familial, autosomal recessive 17y 2y - - Johan den Dunnen 00436227
0000326408 xeroderma pigmentosa XPC sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 0; unscheduled DNA synthesis 13 Familial, autosomal recessive 19y 4y - - Johan den Dunnen 00436228
0000326409 xeroderma pigmentosa XPC sunburn severity score 0; 8y-first cancer, basal cell carcinoma; no malignant melanoma; 8 nonmelanoma skin cancers; ocular severity score 9; neuro severity score 0; unscheduled DNA synthesis 12 Familial, autosomal recessive 21y 4y - - Johan den Dunnen 00436229
0000326410 xeroderma pigmentosa XPC sunburn severity score 0; 12y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 1 Familial, autosomal recessive 23y 11y - - Johan den Dunnen 00436230
0000326411 xeroderma pigmentosa XPC sunburn severity score 0; 22y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 13 Familial, autosomal recessive 23y 5y - - Johan den Dunnen 00436231
0000326412 xeroderma pigmentosa XPC sunburn severity score 0; 3y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 6 Familial, autosomal recessive 27y 23y - - Johan den Dunnen 00436232
0000326413 xeroderma pigmentosa XPC sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 13 Familial, autosomal recessive 38y 19y - - Johan den Dunnen 00436233
0000326414 xeroderma pigmentosa XPC sunburn severity score 0; 31y-first cancer, basal cell carcinoma; 1 malignant melanoma; 6 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 15 Familial, autosomal recessive 39y 6y - - Johan den Dunnen 00436234
0000326415 xeroderma pigmentosa XPC sunburn severity score 0; 20y-first cancer, malignant melanoma; 9 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 27 Familial, autosomal recessive 26y 20y - - Johan den Dunnen 00436235
0000326416 xeroderma pigmentosa XPC sunburn severity score 0; 28y-first cancer, melanoma in situ; 4 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 41 Familial, autosomal recessive 37y 34y - - Johan den Dunnen 00436236
0000326417 xeroderma pigmentosa XPC sunburn severity score 0; 57y-first cancer, basal cell carcinoma; 3 malignant melanomas; 1 nonmelanoma skin cancer; ocular severity score 2; neuro severity score 1; unscheduled DNA synthesis 33 Familial, autosomal recessive 62y 46y - - Johan den Dunnen 00436237
0000326418 xeroderma pigmentosa XPD sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 32 Familial, autosomal recessive 4y 1y - - Johan den Dunnen 00436238
0000326419 xeroderma pigmentosa XPD sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 23 Familial, autosomal recessive 8y 2y - - Johan den Dunnen 00436239
0000326420 xeroderma pigmentosa XPD sunburn severity score 3; 10y-first cancer, squamous cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 4; neuro severity score 6; unscheduled DNA synthesis 10 Familial, autosomal recessive 14y 5y - - Johan den Dunnen 00436240
0000326421 xeroderma pigmentosa XPD sunburn severity score 3; 14y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16 Familial, autosomal recessive 21y 1y - - Johan den Dunnen 00436241
0000326422 xeroderma pigmentosa XPD sunburn severity score 2; 10y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 19 Familial, autosomal recessive 22y 14y - - Johan den Dunnen 00436242
0000326423 xeroderma pigmentosa XPD sunburn severity score 3; 21y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16 Familial, autosomal recessive 23y 2y - - Johan den Dunnen 00436243
0000326424 xeroderma pigmentosa XPD sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 8; unscheduled DNA synthesis 19 Familial, autosomal recessive 26y 1y - - Johan den Dunnen 00436244
0000326425 xeroderma pigmentosa XPD sunburn severity score 3; 13y-first cancer, basal cell carcinoma; no malignant melanoma; 22 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25 Familial, autosomal recessive 34y 5y - - Johan den Dunnen 00436245
0000326426 xeroderma pigmentosa XPD sunburn severity score 3; 12y-first cancer, basal cell carcinoma; 1 malignant melanoma; 50 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25 Familial, autosomal recessive 35y 8y - - Johan den Dunnen 00436246
0000326427 xeroderma pigmentosa XPD sunburn severity score 3; 23y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 7; unscheduled DNA synthesis 13 Familial, autosomal recessive 47y 3y - - Johan den Dunnen 00436247
0000326428 xeroderma pigmentosa XPD sunburn severity score 2; 36y-first cancer, basal cell carcinoma; 5 malignant melanomas; 23 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 3; unscheduled DNA synthesis 24 Familial, autosomal recessive 53y 9y - - Johan den Dunnen 00436248
0000326429 xeroderma pigmentosa XPD sunburn severity score 2; 27y-first cancer, basal cell carcinoma; no malignant melanoma; >40 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 2; unscheduled DNA synthesis 75 Familial, autosomal recessive 65y 55y - - Johan den Dunnen 00436249
0000326430 xeroderma pigmentosa XPD sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 36 Familial, autosomal recessive 21y 4y - - Johan den Dunnen 00436250
0000326431 xeroderma pigmentosa XPD sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 53 Familial, autosomal recessive 34y 29y - - Johan den Dunnen 00436251
0000326432 xeroderma pigmentosa XPE sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 63 Familial, autosomal recessive 30y 29y - - Johan den Dunnen 00436252
0000326433 xeroderma pigmentosa XPE sunburn severity score 1; 15y-first cancer, malignant melanoma; 35 malignant melanomas; >120 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 75 Familial, autosomal recessive 49y 46y - - Johan den Dunnen 00436253
0000326434 xeroderma pigmentosa XPE sunburn severity score 1; 15y-first cancer, basal cell carcinoma; 2 malignant melanomas; >200 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 68 Familial, autosomal recessive 62y 48y - - Johan den Dunnen 00436254
0000326435 xeroderma pigmentosa XPE sunburn severity score 0; 9y-first cancer, basal cell carcinoma; no malignant melanoma; >100 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 53 Familial, autosomal recessive 62y 59y - - Johan den Dunnen 00436255
0000326436 xeroderma pigmentosa XPF sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 36 Familial, autosomal recessive 18y 9y - - Johan den Dunnen 00436256
0000326437 xeroderma pigmentosa XPF sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 16 Familial, autosomal recessive 23y 7y - - Johan den Dunnen 00436257
0000326438 xeroderma pigmentosa XPF sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 6; unscheduled DNA synthesis 4 Familial, autosomal recessive 48y 30y - - Johan den Dunnen 00436258
0000326439 xeroderma pigmentosa XPG sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 0 Familial, autosomal recessive 6y 2y - - Johan den Dunnen 00436259
0000326440 xeroderma pigmentosa XPG sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 3 Familial, autosomal recessive 10y 9y - - Johan den Dunnen 00436260
0000326441 xeroderma pigmentosa XPG sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1 Familial, autosomal recessive 15y 4y - - Johan den Dunnen 00436261
0000326442 xeroderma pigmentosa XPG sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1 Familial, autosomal recessive 18y 7y - - Johan den Dunnen 00436262
0000326443 xeroderma pigmentosa XPG sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 3 Familial, autosomal recessive 20y 2y - - Johan den Dunnen 00436263
0000326444 xeroderma pigmentosa XPG sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 4; Familial, autosomal recessive 36y 36y - - Johan den Dunnen 00436264
0000326445 xeroderma pigmentosa XPG sunburn severity score 3; 20y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; Familial, autosomal recessive 38y 38y - - Johan den Dunnen 00436265
0000326446 xeroderma pigmentosa XPG sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 6; unscheduled DNA synthesis 14 Familial, autosomal recessive 68y 64y - - Johan den Dunnen 00436266
0000326447 xeroderma pigmentosa XPV sunburn severity score 0; 16y-first cancer, squamous cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 144 Familial, autosomal recessive 20y 16y - - Johan den Dunnen 00436267
0000326448 xeroderma pigmentosa XPV sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 111 Familial, autosomal recessive 25y 10y - - Johan den Dunnen 00436268
0000326449 xeroderma pigmentosa XPV sunburn severity score 0; 22y-first cancer, melanoma in situ; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 99 Familial, autosomal recessive 26y 23y - - Johan den Dunnen 00436269
0000326450 xeroderma pigmentosa XPV sunburn severity score 0; 23y-first cancer, malignant melanoma; 3 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 87 Familial, autosomal recessive 27y 24y - - Johan den Dunnen 00436270
0000326451 xeroderma pigmentosa XPV sunburn severity score 0; 42y-first cancer, basal cell carcinoma; 12 malignant melanomas; 11 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 91 Familial, autosomal recessive 54y 53y - - Johan den Dunnen 00436271
0000326452 xeroderma pigmentosa XPV sunburn severity score 0; 38y-first cancer, basal cell carcinoma; 15 malignant melanomas; >20 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 1; unscheduled DNA synthesis 130 Familial, autosomal recessive 55y 45y - - Johan den Dunnen 00436272
0000326453 xeroderma pigmentosa XPV sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 144 Familial, autosomal recessive 55y 45y - - Johan den Dunnen 00436273
0000326454 xeroderma pigmentosa XPV sunburn severity score 0; 21y-first cancer, squamous cell carcinoma; 17 malignant melanomas; 16 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 100 Familial, autosomal recessive 62y 24y - - Johan den Dunnen 00436274
0000326455 xeroderma pigmentosa XPV sunburn severity score 0; 44y-first cancer, basal cell carcinoma; no malignant melanoma; 120 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 90 Familial, autosomal recessive 62y 56y - - Johan den Dunnen 00436275
0000326456 xeroderma pigmentosa XPV sunburn severity score 0; 33y-first cancer, malignant melanoma; 10 malignant melanomas; >10 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 99 Familial, autosomal recessive 67y 44y - - Johan den Dunnen 00436276
0000326457 xeroderma pigmentosa XPV sunburn severity score 0; 44y-first cancer, malignant melanoma; 13 malignant melanomas; 21 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 99 Familial, autosomal recessive 71y 48y - - Johan den Dunnen 00436277
0000326458 xeroderma pigmentosa XPV sunburn severity score 1; 39y-first cancer, malignant melanoma; >8 malignant melanomas; >30 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 100 Familial, autosomal recessive 75y 72y - - Johan den Dunnen 00436278
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