All individuals with variants in gene ZNF142

38 entries on 1 page. Showing entries 1 - 38.
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00470707 Pat68 PubMed: Horbacz 2025 patient, affected F - Poland - - - - - scoliosis see paper; ... scoliosis, no other skeletal defects; back pain; no physical activity 1 1 Johan den Dunnen
00471378 FamBPatII1 PubMed: Khan 2019, PubMed: Zech 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - DYT see paper; ..., combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
00471379 FamAPatII1/2 PubMed: Khan 2019, PubMed: Zech 2020 2-generation family, 2 affected sisters unaffected heterozygous carrier parents F no Slovakia (Slovak Republic) - - - - - DYT see paper; ..., combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy 2 2 Johan den Dunnen
00474013 FamAPat1 PubMed: Christensen 2022 - F - - Europe - - - - NDD see paper; ..., mild intellectual disability 2 1 Johan den Dunnen
00474014 FamBPat2 PubMed: Christensen 2022 - M - - white - - - - NDD see paper; ..., moderate intellectual disability 2 1 Johan den Dunnen
00474015 FamDPat5 PubMed: Christensen 2022 family, 2 affected M - Denmark;Israel - - - - - NDD see paper; ..., moderate intellectual disability 2 1 Johan den Dunnen
00474016 FamEPat7 PubMed: Christensen 2022 family, 2 affected F - Turkey - - - - - NDD see paper; ..., severe intellectual disability 1 1 Johan den Dunnen
00474017 FamFPat9 PubMed: Kameyama 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Malaysia - - - - - NDD see paper; ..., severe intellectual disability, global developmental delay, epilepsy, dysmorphism 2 1 Johan den Dunnen
00474018 FamGPat11 PubMed: Christensen 2022 - M - Egypt - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474019 FamHPat12 PubMed: Christensen 2022 family, 2 affected F - - Europe - - - - NDD see paper; ..., no intellectual disability 2 1 Johan den Dunnen
00474020 FamIPat14 PubMed: Christensen 2022 - F - Belgium white - - - - NDD see paper; ..., no intellectual disability 2 1 Johan den Dunnen
00474021 FamJPat15 PubMed: Christensen 2022 - M - Lebanon - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474022 FamKPat16 PubMed: Christensen 2022 family, 2 affected F - - white - - - - NDD see paper; ..., moderate intellectual disability 2 1 Johan den Dunnen
00474023 FamLPat18 PubMed: Christensen 2022 family, 3 affected M - - Balouch - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474024 FamNPat22 PubMed: Christensen 2022 - M - Pakistan - - - - - NDD see paper; ..., global developmental delay 1 1 Johan den Dunnen
00474025 FamOPat23 PubMed: Christensen 2022 - M - India - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474026 FamPPat24 PubMed: Christensen 2022 family, 3 affected M - Pakistan - - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00474027 FamDPatII2 PubMed: Khan 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - NDD see paper; ..., no intellectual disability 1 1 Johan den Dunnen
00474028 FamCPatIV3 PubMed: Khan 2019 4-generation family, 4 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00474029 FamSPat31 PubMed: Christensen 2022 - F - - Azeri - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00474030 FamTPat32 PubMed: Christensen 2022 family, 2 affected M - India - - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00474031 FamUPat34 PubMed: Christensen 2022 family, 2 affected F - Syria - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474032 FamDPat6 PubMed: Christensen 2022 sister F - Denmark;Israel - - - - - NDD see paper; ..., mild intellectual disability 2 1 Johan den Dunnen
00474033 FamEPat8 PubMed: Christensen 2022 sister F - Turkey - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474034 FamFPat10 PubMed: Kameyama 2022 brother M - Malaysia - - - - - NDD see paper; ..., moderate intellectual disability, global developmental delay, epilepsy, dysmorphism 2 1 Johan den Dunnen
00474035 FamHPat13 PubMed: Christensen 2022 brother M - - Europe - - - - NDD see paper; ..., no intellectual disability 2 1 Johan den Dunnen
00474036 FamKPat17 PubMed: Christensen 2022 sister F - - white - - - - NDD see paper; ..., mild intellectual disability 2 1 Johan den Dunnen
00474037 FamLPat19 PubMed: Christensen 2022 sister F - - Balouch - - - - NDD see paper; ..., severe intellectual disability 1 1 Johan den Dunnen
00474038 FamLPat20 PubMed: Christensen 2022 sister (proband) F - - Balouch - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474039 FamPPat25 PubMed: Christensen 2022 brother M - Pakistan - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474040 FamPPat26 PubMed: Christensen 2022 brother M - Pakistan - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474041 FamCPatIV7 PubMed: Khan 2019 twin-sisters F yes Pakistan - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474042 FamCPatIV8 PubMed: Khan 2019 twin-sisters F yes Pakistan - - - - - NDD see paper; ..., severe intellectual disability 1 1 Johan den Dunnen
00474043 FamTPat33 PubMed: Christensen 2022 sister F - India - - - - - NDD see paper; ..., mild intellectual disability 1 1 Johan den Dunnen
00474044 FamUPat35 PubMed: Christensen 2022 brother M - Syria - - - - - NDD see paper; ..., moderate intellectual disability 1 1 Johan den Dunnen
00474097 FamPatV1 PubMed: Kamal 2022 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - NDD see paper; ..., moderate intellectual diasbility; speech impairment; developmental delay, wheelchair bound; seizures (generalized tonic–clonic); no ataxia; no tremor; hypotonia; MRI brain normal; no dystonia; no behavioral problems; no dolichocephaly; no torticollis; no prominent eyes; no micrognathia; no flat nasal bridge 2 1 Johan den Dunnen
00474098 FamPatIII9 PubMed: Proskorovski-Ohayon 2024 2-generation family, affected girl/paternal aunt, unaffected heterozygous carrier parents/relatives F yes Israel Bedouin - - - - NDD see paper; ..., born at term, uneventful pregnancy, normal birth weight; three spontaneous early abortions; early-onset intellectual disability; severe developmental delay; 3y-tonic-clonic seizures, intellectual regression, motor regression; <50y-wheelchair-bound, , no speech, needs support with feeding/aily needs, tonic-clonic seizures persist 1 2 Johan den Dunnen
00474099 FamPatV3 PubMed: Proskorovski-Ohayon 2024 girl F yes Israel Bedouin - - - - NDD see paper; ..., born at term, uneventful pregnancy, normal birth weight; 8m-tonic-clonic seizures; early-onset intellectual disability; severe developmental delay, 30m-walk; one spontaneous abortion; MRI brain normal; profound speech delay, restricted vocabulary/comprehension 1 1 Johan den Dunnen
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