All individuals with variants in gene RNU4ATAC

76 entries on 1 page. Showing entries 1 - 76.
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00151831 109859 - - F no Germany - - - - - RFMN Hepatomegaly, neonatal jaundice, short stature, Intrauterine growth restriction (IUGR), recurrent infections, Eczema, Hypotonia 2 1 Andreas Laner
00207814 21474760-Fam1 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam2) F yes United States Amish, Ohio - - - - MOPD see paper; … 1 3 Johan den Dunnen
00207815 21474760-Fam2 PubMed: He 2011 7-generation family, 3 affected (6F), unaffected heterozygous carrier parents/relatives (linked to Fam1) F yes United States Amish, Ohio - - - - MOPD see paper; … 1 3 Johan den Dunnen
00207816 21474760-Fam3 PubMed: He 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes United States Amish, Ohio - - - - MOPD see paper; … 1 2 Johan den Dunnen
00207817 21474760-Fam4 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Amish, Ohio - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207818 21474760-Fam5 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Amish, Ohio - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207819 21474760-Fam6 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States Amish, Ohio - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207820 21474760-Fam7 PubMed: He 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish, Ohio - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207821 21474760-FamPat8 PubMed: He 2011 unaffected heterozygous carrier parents - - Australia - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207822 21474760-FamPat9 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207823 21474760-FamPat10 PubMed: He 2011 unaffected heterozygous carrier parents - - Germany - - - - - MOPD see paper; … 2 1 Johan den Dunnen
00207824 21474761-Fam1 PubMed: Edery 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Algeria - - - - - MOPD see paper; … 1 2 Johan den Dunnen
00207825 21474761-Fam2 PubMed: Edery 2011 3-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207826 21474761-Fam3 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207827 21474761-Fam4 PubMed: Edery 2011 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - - - - MOPD see paper; … 1 2 Johan den Dunnen
00207828 21474761-Fam5 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207829 21474761-Fam6 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - MOPD see paper; … 2 1 Johan den Dunnen
00207830 21474761-Fam7 PubMed: Edery 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - MOPD see paper; … 2 1 Johan den Dunnen
00207831 21474761-Fam8 PubMed: Edery 2011 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents F - Norway - - - - - MOPD see paper; … 3 1 Johan den Dunnen
00207832 26522830-FamK1 PubMed: Merico 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M no United Kingdom (Great Britain) - - - - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... 2 2 Johan den Dunnen
00207833 26522830-FamK2 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... 2 1 Johan den Dunnen
00207834 26522830-FamK3 PubMed: Merico 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Lebanon - - - - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... 2 2 Johan den Dunnen
00207835 26522830-FamK4 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Albania - - - - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... 2 1 Johan den Dunnen
00207836 22581640-Fam1Pat1 PubMed: Abdel-Salam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Egypt - - - - - MOPD see paper; no severe developmental delay, no neurological symptoms, ... 2 1 Johan den Dunnen
00207837 22581640-Fam2Pat2/3 PubMed: Abdel-Salam 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F;M yes Yemen - - - - - MOPD see paper; no severe developmental delay, no neurological symptoms, ... 1 2 Johan den Dunnen
00207838 21815888-Pat1 PubMed: Nagy 2012 - F - United States Amish 1y6m - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features 1 1 Johan den Dunnen
00207839 21815888-Pat2 PubMed: Nagy 2012 - F - United States Amish 3m15d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features 1 1 Johan den Dunnen
00207840 21815888-Pat3 PubMed: Nagy 2012 - F - United States Amish 2m23d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; skin/hair features 1 1 Johan den Dunnen
00207841 21815888-Pat4 PubMed: Nagy 2012 - F - United States Amish 10m - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features 1 1 Johan den Dunnen
00207842 21815888-Pat5 PubMed: Nagy 2012 - M - United States Amish 9m15d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; no other organ anomalies; skin/hair features 1 1 Johan den Dunnen
00207843 21815888-Pat6 PubMed: Nagy 2012 - F - United States Amish - - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features 1 1 Johan den Dunnen
00207844 21815888-Pat7 PubMed: Nagy 2012 - - - United States Amish - - - - MOPD - 1 1 Johan den Dunnen
00207845 21815888-Pat8 PubMed: Nagy 2012 - - - United States Amish - - - - MOPD - 1 1 Johan den Dunnen
00207846 21815888-Pat9 PubMed: Nagy 2012 - M - United States Amish 10m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features 1 1 Johan den Dunnen
00207847 21815888-Pat10 PubMed: Nagy 2012 - F - United States Amish 10m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair featuresm 1 1 Johan den Dunnen
00207848 21815888-Pat11 PubMed: Nagy 2012 - F - United States Amish 4m15d - - - MOPD - 1 1 Johan den Dunnen
00207849 21815888-Pat12 PubMed: Nagy 2012 - F - United States Amish 8m15d - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; no other organ anomalies; skin/hair features 1 1 Johan den Dunnen
00207850 21815888-Pat13 PubMed: Nagy 2012 - F - United States Amish >1y - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; no other organ anomalies; skin/hair features 1 1 Johan den Dunnen
00207851 21815888-Pat14 PubMed: Nagy 2012 - F - United States Amish 8m15d - - - MOPD microcephaly (HP:0000252); typical face; musculoskeletal features; hydrocephaly; skin/hair features 1 1 Johan den Dunnen
00207852 21815888-Pat15 PubMed: Nagy 2012, Haan 1989 - M - Malta - 1m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; skin/hair features 1 1 Johan den Dunnen
00207853 21815888-Pat16 PubMed: Nagy 2012 - F - Germany - >9y - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; no musculoskeletal features; skin/hair features 1 1 Johan den Dunnen
00207854 21815888-Pat17 PubMed: Nagy 2012,Klinge 2002 - M - Germany - >12y9m - - - MOPD microcephaly (HP:0000252); typical brain anomalies; typical face; musculoskeletal features; radiographic findings; bilateral cryptorchidism; 2y-acute lymphocytic leukemia; skin/hair features 2 1 Johan den Dunnen
00207855 21990275-Fam1PatIV2/3 PubMed: Abdel-Salam 2011 4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - MOPD see paper; ... 1 1 Johan den Dunnen
00207856 23794361-Fam1Pat1/2 PubMed: Abdel-Salam 2013 2-generation family, affected brothers, unaffected heterozygous carrier parents M - Egypt - - - - - MOPD see paper; ... 1 2 Johan den Dunnen
00207857 23794361-Fam2Pat3 PubMed: Abdel-Salam 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - MOPD see paper; ... 1 1 Johan den Dunnen
00207858 23794361-Fam3Pat4/5 PubMed: Abdel-Salam 2013 2-generation family, affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - MOPD see paper; ... 1 2 Johan den Dunnen
00207859 25735804-Fam1Pat1 PubMed: Kilic 2015 - M yes Turkey - >03y - - - MOPD see paper; ... 1 1 Johan den Dunnen
00207860 26419500-FamPat1 PubMed: Abdel-Salam 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - >18y - - - MOPD see paper; ... 1 1 Johan den Dunnen
00207861 26641461-FamPat1/2 PubMed: Kroigard 2016, PubMed: Kroigard 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no New Zealand - - - - - ? see paper; prenatal and postnatal growth retardation, microcephaly, developmental delay, cataract, hearing loss, dysmorphic features, ... 2 2 Johan den Dunnen
00207862 21815888-Pat1 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - MOPD see paper; … 2 1 Johan den Dunnen
00207863 21815888-Pat2 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Malta - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207864 21815888-Pat3 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Turkey - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207865 21815888-Pat4 PubMed: Putoux 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Rwanda - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207866 21815888-Fet1 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - France - - - - - MOPD see paper; … 1 1 Johan den Dunnen
00207867 21815888-Fet2 PubMed: Putoux 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents - - Netherlands - - - - - MOPD see paper; … 2 1 Johan den Dunnen
00207868 21815888-Fet3/4 PubMed: Putoux 2016 2-generation family, affected twin fetuses, unaffected heterozygous carrier parents - - France - - - - - MOPD see paper; … 2 2 Johan den Dunnen
00207869 27312855-FamPat PubMed: Ferrell 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States - - - - - MOPD see paper; ... 1 1 Johan den Dunnen
00207870 28623346-Fam2PatII1/2 PubMed: Bogaert 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Belgium - - - - - MOPD see paper; ... 2 2 Johan den Dunnen
00207872 28771251-Pat5 PubMed: Lionel 2018 - M no Canada - - - - - ? rod-cone dystrophy; microcephaly; short stature; cognitive impairment; abnormality of epiphysis morphology 2 1 Johan den Dunnen
00207873 29263834-FamK1PatIII3 PubMed: Dinur Schejter 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - MOPD see paper; ... 1 1 Johan den Dunnen
00207874 29263834-FamK2PatII1 PubMed: Dinur Schejter 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India Tamil - - - - MOPD see paper; ... 2 1 Johan den Dunnen
00207875 29265708-Pat1 PubMed: Farach 2018 adopted child F - - - - - - - LWS see paper; ... 2 1 Johan den Dunnen
00207876 29265708-FamPat2/3 PubMed: Farach 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no - - - - - - LWS see paper; ... 3 2 Johan den Dunnen
00207877 29370840-FamFet1/2 PubMed: Wang 2018 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - no China north - - - - microcephaly see paper; ... 2 1 Johan den Dunnen
00207878 30368667-Pat1 PubMed: Shelihan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy - - - - - LWS see paper; ... 2 1 Johan den Dunnen
00207879 30368667-Pat2 PubMed: Shelihan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy - - - - - LWS see paper; ... 2 1 Johan den Dunnen
00207880 30455926-Pat1 PubMed: Hallermayr 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - MOPD see paper; ... 2 1 Johan den Dunnen
00331554 10DG0295 , 10DG0296, 10DG0297 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - - - - skeletal dysplasia Short stature, Congenital microcephaly, Intellectual disability, Hydronephrosis, Ichthyosis No 2 3 LOVD
00447204 MISC-293 PubMed: Weisschuh 2024 patient M - Germany - - - - - ? - 2 1 Johan den Dunnen
00465288 - - - - - - - - - - - JBTS - 2 1 Fulvio D'Abrusco
00465289 - - - - - - - - - - - JBTS - 2 1 Fulvio D'Abrusco
00465290 - - - - - - - - - - - JBTS - 2 1 Fulvio D'Abrusco
00467382 PatA PubMed: Arriaga 2025 - - - United States - - - - - ? short stature; microcephaly; generalized hypotonia; no neurodevelopmental delay; intellectual disability; no seizures; no ataxia; ventriculomegaly; no peripheral neuropathy; scoliosis; no coxa valga; syndactyly; no joint hypermobility; no immunodeficiency; growth hormone deficiency; no hypothyroidism; no adrenal insufficiency; no diabetes mellitus; retinal anomalies; no nystagmus; no oculomotor apraxia; exotropia; arrhythmia; no congestive heart failure 2 1 Johan den Dunnen
00467383 PatB PubMed: Arriaga 2025 family, 2 affected sibs - - United States - - - - - ? short stature; microcephaly; generalized hypotonia; neurodevelopmental delay; intellectual disability; no seizures; ataxia; no ventriculomegaly; peripheral neuropathy; no scoliosis; coxa valga; no syndactyly; joint hypermobility; immunodeficiency; no growth hormone deficiency; hypothyroidism; no adrenal insufficiency; no diabetes mellitus; retinal anomalies; no nystagmus; no oculomotor apraxia; no exotropia; no arrhythmia; no congestive heart failure 2 1 Johan den Dunnen
00467384 FamPatC1 PubMed: Arriaga 2025 - - - United States - - - - - ? short stature; microcephaly; no generalized hypotonia; no neurodevelopmental delay; no intellectual disability; no seizures; no ataxia; no ventriculomegaly; peripheral neuropathy; no scoliosis; no coxa valga; no syndactyly; no joint hypermobility; immunodeficiency; growth hormone deficiency; hypothyroidism; adrenal insufficiency; diabetes mellitus; no retinal anomalies; no nystagmus; no oculomotor apraxia; no exotropia; no arrhythmia; no congestive heart failure 2 2 Johan den Dunnen
00467385 FamPatC2 PubMed: Arriaga 2025 - - - United States - - - - - ? short stature; microcephaly; no generalized hypotonia; no neurodevelopmental delay; no intellectual disability; no seizures; no ataxia; no ventriculomegaly; no peripheral neuropathy; no scoliosis; no coxa valga; no syndactyly; no joint hypermobility; no immunodeficiency; no growth hormone deficiency; hypothyroidism; adrenal insufficiency; no diabetes mellitus; retinal anomalies; no nystagmus; no oculomotor apraxia; no exotropia; no arrhythmia; congestive heart failure 2 1 Johan den Dunnen
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