Phenotypes for disease #00054 (RTS2 (Rothmund-Thomson syndrome, type 2,), OMIM:268400)

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AscendingPhenotype ID     
Diagnosis/Initial     
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Diagnosis/Definite     
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Age/Onset     
Phenotype/Onset     
Phenotype details     
Protein     
Owner     
Individual ID     
0000000055 - Familial, autosomal recessive - - - - - - - Anne Polvi 00000345
0000036639 - Familial, autosomal recessive 15y - - - - Poikiloderma, short stature - Sabina Gallati, Prof. 00049848
0000036640 - Familial, autosomal recessive 29y - - - - poikiloderma, telangiectatic lesions, punctate atrophy, alopecia, saddle nose, short ulnae, osteopenia, short stature, squamous cell carcinoma, basal cell carcinoma - Sabina Gallati, Prof. 00049865
0000036641 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036642 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036643 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036644 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036645 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036646 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036647 - Familial, autosomal recessive 08y - - - - poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea - Sabina Gallati, Prof. 00049866
0000036648 - Familial, autosomal recessive - - - - - - - Sabina Gallati, Prof. 00049866
0000036649 - Familial, autosomal recessive 02y - - - - poikiloderma, microdontia, abnormalities of the long bones, short stature, delayed motor development, nutritional problems, osteosarcoma - Sabina Gallati, Prof. 00049867
0000036650 - Familial, autosomal recessive 02y - - - - poikiloderma, erythema, telangiectatic lesions, hyperkeratosis, alopecia, cataract, frontal bossing, short stature - Sabina Gallati, Prof. 00049868
0000036651 - Familial, autosomal recessive 01y06m - - - - poikiloderma, erythema, telangiectatic lesions, pachyonychia, delayed dentition, hypoplastic teeth, saddle nose, joint pain, slow weight gain, impaired neurocognitive development - Sabina Gallati, Prof. 00049869
0000036652 - Familial, autosomal recessive 01y08m - - - - multiple café-au-lair spots, skeletal lesions, linear growth deficiency, chronic diarrhoea - Sabina Gallati, Prof. 00049870
0000036653 - Familial, autosomal recessive 03y - - - - - - Sabina Gallati, Prof. 00049871
0000036654 - Familial, autosomal recessive 05y - - - - multiple café-au-lair spots, abnormalities of the long bones, hypo plastic thumbs, short stature - Sabina Gallati, Prof. 00049872
0000036655 - Familial, autosomal recessive 07y - - - - poikiloderma - Sabina Gallati, Prof. 00049873
0000036658 - Familial, autosomal recessive 01y09m - - - - alopecia, bilateral elbow/knee dislocations, hypoplastic thumbs, failure to thrive, chronic diarrhoea - Sabina Gallati, Prof. 00049880
0000036659 - Familial, autosomal recessive 00y01m - - - - - - Sabina Gallati, Prof. 00049884
0000036660 - Familial, autosomal recessive 11y - - - - alopecia, dystrophic nails, osteopenia, short stature, gastrointestinal symptoms during infancy - Sabina Gallati, Prof. 00049885
0000044577 - Familial, autosomal recessive - - - - - see paper; two siblings with a mild phenotype, mainly restricted to the skin, ... - Johan den Dunnen 00004160
0000060477 - Familial, autosomal recessive - - - - - Rothmund-Thomson syndrome (OMIM:268400) - Daniel Trujillano 00080908
0000105069 - Familial, autosomal recessive 05y06m - - - - - - Baoheng Gui 00132285
0000105070 - Familial, autosomal recessive 00y10m - - - - - - Baoheng Gui 00132286
0000105071 - Familial, autosomal recessive 04y06m - - - - - - Baoheng Gui 00132288
0000127232 RTS Unknown - RTS - 00y06m - poikiloderma on face, limbs and buttocks; hyperkeratosis on palms, soles and knukles; onychodystophy; sparse eyebrows; keratoconus; low bone density. - Elisa Adele Colombo 00154496
0000127235 RTS Familial, autosomal recessive - RTS - - - Poikiloderma, growth delay, plantar hyperkeratosis, photosensitivity, sparse hair, eyelashes, eyebrows, onychodystrophy, dental defects, osteosclerosis and cystic-like lesions, diarrhea, food intolerance in infancy. Her younger brother died for osteosarcoma at 18y. - Elisa Adele Colombo 00154499
0000127236 RTS Familial, autosomal recessive - RTS - - - Poikiloderma, hyperkeratosis on palms and joints, dental defects, recurrent middle ear infections, IgA deficiency, knee arthritis - Elisa Adele Colombo 00154500
0000127237 probable RTS Isolated (sporadic) - probable RTS - - - Growth delay, plantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic anemia, hyperferritinemia, hypercholesterolemia, no poikiloderma but only white nodular lesions on the skin and swelling. She had alveolar rhabdomyosarcoma at 12y - Elisa Adele Colombo 00154501
0000199685 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts, corneal ulcer, retinal detachment; poikiloderma; cafe-au-lait spots; eczema; osteoporosis, left foot fracture - Johan den Dunnen 00261179
0000199686 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts; poikiloderma; hyperkaratosis; sparse hair or alopecia; absent eyebrows; premature ovarian failure; no short stature - Johan den Dunnen 00261180
0000199687 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts; poikiloderma; hyperkaratosis; absent eyebrows; absent eyelashes; no short stature - Johan den Dunnen 00261181
0000199688 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts; poikiloderma; absent eyebrows; absent eyelashes; premature ovarian failure; no short stature - Johan den Dunnen 00261182
0000199689 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts; poikiloderma; sparse hair or alopecia; absent eyebrows; absent eyelashes; abnromal teeth; short stature - Johan den Dunnen 00261183
0000199690 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts, astigmatism; poikiloderma; blistering; photosensitivity; sparse hair or alopecia; absent eyebrows; hypogonadism; undescended testes, micropenis; short stature; growth hormone therapy; mild developmental delay; recurrent otis media; GI disturbance, adenoidal hypertrophy - Johan den Dunnen 00261184
0000199691 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts, microphthalmia, strabismus; poikiloderma; blistering; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges, dysplastic aspect phalanges, large metaphyses long bones, genu varum; intellectual disability - Johan den Dunnen 00261185
0000199692 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts, strabismus; poikiloderma; sparse hair or alopecia; cone-shaped teeth; dystrophic nails; hypothyroidism; undescended testes; short stature; growth hormone therapy; delayed bone age, short metacarpals/phalanges; attention-deficit hyperactivity disorder - Johan den Dunnen 00261186
0000199693 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; sparse hair or alopecia; absent eyebrows; absent eyelashes; small pointy teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; arm fracture (never healed properly), punctate sclerotic foci multiple metaphyses; recurrent otis media; history of hearing loss improved after PET placement - Johan den Dunnen 00261187
0000199694 Rothmund-Thomson syndrome Familial, autosomal recessive - - - - - bilateral juvenile cataracts, lens detachment, photodysphoria, filamentary keratitis; poikiloderma; hyperkaratosis; blistering; cafe-au-lait spots; warts; sparse hair or alopecia; absent eyebrows; absent eyelashes; small misshaped teeth with caries; thin nails; undescended testes; short stature; growth hormone therapy; right arm fixed flexion deformity - Johan den Dunnen 00261188
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