All individuals with variants in gene ANAPC1

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
ID_report     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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00261179 Pat1 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected parents F - - - - - - - RTS2 bilateral juvenile cataracts, corneal ulcer, retinal detachment; poikiloderma; cafe-au-lait spots; eczema; osteoporosis, left foot fracture 1 1 Johan den Dunnen
00261180 Pat2 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - RTS2 bilateral juvenile cataracts; poikiloderma; hyperkaratosis; sparse hair or alopecia; absent eyebrows; premature ovarian failure; no short stature 1 1 Johan den Dunnen
00261181 Fam3PatA Journal: Ajeawung 2019 2-generation family, 2 affected sisters, unaffected carrier mother F - - - - - - - RTS2 bilateral juvenile cataracts; poikiloderma; hyperkaratosis; absent eyebrows; absent eyelashes; no short stature 1 2 Johan den Dunnen
00261182 Fam3PatB Journal: Ajeawung 2019 - F - - - - - - - RTS2 bilateral juvenile cataracts; poikiloderma; absent eyebrows; absent eyelashes; premature ovarian failure; no short stature 1 1 Johan den Dunnen
00261183 Pat4 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother F - - - - - - - RTS2 bilateral juvenile cataracts; poikiloderma; sparse hair or alopecia; absent eyebrows; absent eyelashes; abnromal teeth; short stature 1 1 Johan den Dunnen
00261184 Pat5 Journal: Ajeawung 2019 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - RTS2 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 2 1 Johan den Dunnen
00261185 Fam6PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - RTS2 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 2 2 Johan den Dunnen
00261186 Fam6PatB Journal: Ajeawung 2019 - M - - - - - - - RTS2 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 2 1 Johan den Dunnen
00261187 Fam7PatA Journal: Ajeawung 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - RTS2 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 2 2 Johan den Dunnen
00261188 Fam7PatB Journal: Ajeawung 2019 - M - - - - - - - RTS2 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 2 1 Johan den Dunnen
00386233 RPN-442 PubMed: Rodriguez-Munoz 2020 family fRPN-197, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00438677 HSJ0637 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) F - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizures; EEG modified hypsarrhythmia, myoclonic, diffuse slowing with myoclonic spikes; MRI brain atrophy, partial agenesis corpus callosum, delayed myelination, decreased N-acetylaspartate; acquired microcephaly, axial hypotonia 1 1 Johan den Dunnen
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