All individuals with variants in gene ROR2

88 entries on 1 page. Showing entries 1 - 88.
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00294890 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00294891 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00294892 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 88 Mohammed Faruq
00294893 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00305255 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00305256 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00311810 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - RRS - 1 1 Jacopo Celli
00311811 - PubMed: van Bokhoven 2000 3 patients from 3 families - - Turkey - - - - - RRS - 1 3 Jacopo Celli
00311812 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - RRS - 1 1 Jacopo Celli
00311813 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - RRS - 1 1 Jacopo Celli
00311814 - PubMed: Tufan 2005 1 family, 1 patient - - Turkey - - - - - RRS - 1 1 Jacopo Celli
00311815 - PubMed: Tufan 2005 1 family, 1 patient - - Germany - - - - - RRS - 2 1 Jacopo Celli
00311816 - PubMed: Afzal 2000 1 family, 3 patients - - Brazil - - - - - RRS - 1 3 Jacopo Celli
00311817 - PubMed: Afzal 2000 1 family, 1 patient - - Pakistan - - - - - RRS - 2 1 Jacopo Celli
00311818 - PubMed: Afzal 2000 14 patients from 7 families - - Oman - - - - - RRS - 1 14 Jacopo Celli
00311819 - PubMed: Afzal 2000 1 family, 1 patient - - Turkey - - - - - RRS - 1 1 Jacopo Celli
00311820 - PubMed: Oldridge 2000 3 patients from 3 families - - England - - - - - BDB1 - 1 3 Jacopo Celli
00311821 - PubMed: Oldridge 2000 1 family, 3 patients - - Germany - - - - - BDB1 - 1 3 Jacopo Celli
00311822 - PubMed: Oldridge 2000 1 family, 2 patients - - Portugal - - - - - BDB1 - 1 2 Jacopo Celli
00311823 - PubMed: Oldridge 2000 39 patients - - - - - - - - Healthy/Control - 1 39 Jacopo Celli
00311824 - PubMed: Oldridge 2000 39 patients - - - - - - - - Healthy/Control - 1 39 Jacopo Celli
00311825 - PubMed: Oldridge 2000 39 patients - - - - - - - - Healthy/Control - 1 39 Jacopo Celli
00311826 - PubMed: Oldridge 2000 39 patients - - - - - - - - Healthy/Control - 1 39 Jacopo Celli
00311827 - PubMed: Schwabe 2000 1 family, 3 patients - - Germany - - - - - BDB1 - 1 3 Jacopo Celli
00311828 - PubMed: Schwabe 2000 1 family, 10 patients (1 patient is homozygous) - - Turkey - - - - - BDB1 - 1 10 Jacopo Celli
00311829 - PubMed: Schwabe 2000 2 families, 5 patients - - Germany - - - - - BDB1 - 1 5 Jacopo Celli
00311830 - PubMed: Schwabe 2000 1 family, 1 patient - - Germany - - - - - BDB1 - 1 1 Jacopo Celli
00311831 - PubMed: Schwabe 2000 1 family, 1 patient - - - - - - - - Healthy/Control - 1 1 Jacopo Celli
00311832 - PubMed: Schwabe 2000 1 family, 1 patient - - - - - - - - Healthy/Control - 1 1 Jacopo Celli
00311833 - PubMed: Schwabe 2000 1 family, 1 patient - - - - - - - - Healthy/Control - 1 1 Jacopo Celli
00311834 - PubMed: van Bokhoven 2000 1 family, 1 patient - - Pakistan - - - - - RRS - 1 1 Jacopo Celli
00311835 - PubMed: Bacchelli 2003 1 family, 3 patients; family originally described as HBND - - Wales - - - - - BDB1 - 1 3 Jacopo Celli
00311836 - PubMed: Yang 2004 1 family, 1 patient - - China - - - - - BDB1 - 1 1 Jacopo Celli
00311837 - PubMed: Hellani 2009 1 family, 1 patient - - Saudi Arabia - - - - - BDB1 - 1 1 Jacopo Celli
00311838 - PubMed: Brunetti-Pierri 2008 1 family, 4 patients - - - - - - - - RRS Robinow syndrome, syringomyelia 1 4 Jacopo Celli
00311839 patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - RRS - 1 1 Jacopo Celli
00311840 patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier mother F - United Kingdom (Great Britain) - - - - - RRS - 2 1 Jacopo Celli
00311841 - PubMed: Hamamy 2006 1 family, 2 patients - - Jordan - - - - - BDB1 - 1 2 Jacopo Celli
00311842 - PubMed: Schwarzer 2009 1 family, 1 patient - - Oman - - - - - RRS severe brachydactyly (BDB1); patient BDB_005 has deletion of the same region 1 1 Jacopo Celli
00313952 FamA4Pat PubMed: Lima 2022, Journal: Lima 2022 5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - ? short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; no micrognathia; retrognathia; high, narrow palate; oral cleft; abnormality of the dentition; tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; syndactyly; no camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae 1 2 Juliana Mazzeu
00331555 13DG2208 , 17DG0871 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Hemivertebrae, Hypoplasia of the radius 1 2 LOVD
00394788 BAB9136;PatA6 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; camptodactyly; single transverse palmar crease; no broad hallux; micropenis; hypospadias; no cryptorchidism; sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation 2 1 Johan den Dunnen
00394789 BAB14232;PatA21 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; no anteverted nares; no long philtrum; no short philtrum; triangular mouth; no downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; no retrognathia; no oral cleft; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 2 1 Johan den Dunnen
00406533 FamA1PatII3 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; no midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; no micrognathia; no retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; no hip dislocation 1 3 Johan den Dunnen
00406534 FamA2PatII4 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; no upslanted palpebral; downslanted palpebral; ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; no micrognathia; no retrognathia; oral cleft; no abnormality of the dentition; no tooth agenesis; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; micropenis; no hypospadias; cryptorchidism; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae 1 2 Johan den Dunnen
00406535 FamA3PatIV2 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; no clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae 1 5 Johan den Dunnen
00406536 PatA5 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey;United States - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; no retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; microtia; low-set ears; no short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; hypoplastic labia minora; hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation 2 1 Johan den Dunnen
00406538 PatA7 PubMed: Lima 2022, Journal: Lima 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; long palpebral fissure; no epicanthus; strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; no micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406539 PatA8 PubMed: Lima 2022, Journal: Lima 2022 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; tooth agenesis; melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; single transverse palmar crease; hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406540 PatA9 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406541 PatA10 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; no oral cleft; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; no hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae 1 1 Johan den Dunnen
00406542 PatA11 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation 2 1 Johan den Dunnen
00406543 PatA12 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Romania - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; low-set ears; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; scoliosis; no rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406544 PatA13 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; no tooth agenesis; melanocytic nevus; no microtia; low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; camptodactyly; broad hallux; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406545 PatA14 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Chile - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; depressed nasal bridge; no wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; oral cleft; melanocytic nevus; no microtia; low-set ears; short neck; no broad thumb; short palm; brachydactyly; no clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; micropenis; hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406546 PatA15 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; no triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; no micrognathia; no retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; no hip dislocation 2 1 Johan den Dunnen
00406547 PatA16 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - RRS short stature; prominent forehead; hypertelorism; no proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; abnormality of the dentition; tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; no abnormality of the kidney; hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; limited pronation/supination of forearm; hip dislocation 2 1 Johan den Dunnen
00406548 PatA17 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no bifid tongue; no micrognathia; no retrognathia; no oral cleft; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; no broad thumb; no short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 1 2 Johan den Dunnen
00406549 PatA18 PubMed: Lima 2022, Journal: Lima 2022 sister F yes India - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no bifid tongue; no micrognathia; no retrognathia; no oral cleft; no tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; no short neck; no pectus excavatum; no broad thumb; no short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406550 PatA19 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; no long palpebral fissure; no epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; no low-set ears; short neck; no pectus excavatum; broad thumb; no short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; hypoplastic labia minora; hypoplastic labia majora; no sacral dimple; no abnormal heart morphology; abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 1 1 Johan den Dunnen
00406551 PatA20 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; no strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; no long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; micrognathia; retrognathia; no high, narrow palate; no oral cleft; no abnormality of the dentition; no tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; no syndactyly; camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; no cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; no inguinal hernia; scoliosis; no rib fusion; mesomelia; hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 2 1 Johan den Dunnen
00406553 PatA22 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - RRS short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; no long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; high, narrow palate; no oral cleft; abnormality of the dentition; melanocytic nevus; no microtia; no low-set ears; short neck; no pectus excavatum; no broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; no syndactyly; no camptodactyly; no single transverse palmar crease; no broad hallux; no hypoplastic labia minora; no hypoplastic labia majora; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; no inguinal hernia; no scoliosis; no rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation 2 1 Johan den Dunnen
00406554 Fam1Pat1 PubMed: Aglan 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - RRS weight -1.8 SD, length -2.1 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal 1 1 Johan den Dunnen
00406555 Fam2Pat2 PubMed: Aglan 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Egypt Egypt-L - - - - RRS weight -0.5 SD, length -4.0 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; no upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal 1 1 Johan den Dunnen
00406556 Fam3Pat3 PubMed: Aglan 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - RRS weight -1.6 SD, length -2.1 SD, OFC -1.4 SD; delayed motor and mental milestones ; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; no abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG ventricular septal defect 1 2 Johan den Dunnen
00406557 Fam3Pat4 PubMed: Aglan 2015 sister F yes Egypt Egypt-U - - - - RRS weight -1.8 SD, length -3.0 SD, OFC -2.7 SD; Delayed; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; micrognathia; natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG normal 1 1 Johan den Dunnen
00406558 Fam4Pat5 PubMed: Aglan 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - RRS weight -1.2 SD, length -4.5 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; hemivertebrae; no spina bifida; no scoliosis; rib crowding and fusion; ECG normal 1 1 Johan den Dunnen
00406559 Fam5Pat6 PubMed: Aglan 2015 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-L - - - - RRS weight -3.0 SD, length -3.6 SD, OFC -0.5 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; hemivertebrae; no spina bifida; scoliosis; no rib crowding and fusion; ECG normal 1 2 Johan den Dunnen
00406560 Fam5Pat7 PubMed: Aglan 2015 brother M yes Egypt Egypt-L - - - - RRS weight -2.8 SD, length -4.0 SD, OFC -0.8 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; no bifid tip of tongue; no crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; no spina bifida; no scoliosis; no rib crowding and fusion; ECG normal 1 1 Johan den Dunnen
00406561 Fam6Pat8 PubMed: Aglan 2015 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F - Egypt Egypt-L - - - - RRS weight -2.7 SD, length -5.4 SD, OFC -2.4 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; scoliosis; rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis 1 3 Johan den Dunnen
00406562 Fam6Pat9 PubMed: Aglan 2015 sister F - Egypt Egypt-L - - - - RRS weight -3.0 SD, length -5.0 SD, OFC -1.9 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; absent/hypoplastic labia or clitoris; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis 1 1 Johan den Dunnen
00406563 Fam6Pat10 PubMed: Aglan 2015 brother M - Egypt Egypt-L - - - - RRS weight -1.9 SD, length -4.7 SD, OFC -1.0 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; fused vertebrae; hemivertebrae; spina bifida; no scoliosis; no rib crowding and fusion; ECG atrial septal defect, pulmonary stenosis 1 1 Johan den Dunnen
00406564 Fam7Pat11 PubMed: Aglan 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-L - - - - RRS weight -1.2 SD, length -1.0 SD, OFC 2.8 SD; normal motor and mental milestones; flat face; broad forehead; wide eyes; hypertelorism; mid face hypoplasia; short nose; upturned nasal tip; deep grooved philtrum; macrostomia; bow shaped mouth; pseudolabial cleft of lower lip; bifid tip of tongue; no crowded teeth; gingival overgrowth; no micrognathia; no natal teeth; no midline abdominal defect/umbilical hernia; micropenis; no mesomelia; brachydactyly; broad thumbs and big toes; abnormal dermatoglyphics; no fused vertebrae; no hemivertebrae; no spina bifida; no scoliosis; no rib crowding and fusion; ECG normal 1 1 Johan den Dunnen
00406565 Pat1 PubMed: Kirat 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - RRS see paper; ..., acromesomelic short stature, scoliosis, height 132 cm (<3rd centile), weight 32 kg (<3rd centile), OFC 52 cm (<3rd centile), relative macrocephaly, hypertelorism, depressed nasal bridge, bulbous nasal tip, large mouth, short uvula; brachydactyly, aplasia middle phalanx, shortening distal phalanx fifth fingers bilaterally; toe nail dystrophy, fifth fingernail aplasia; forearm supination, pronation restricted.; phalangeal anomalies, acromesomelia, hand length 11.5 cm (<3rd centile)], scoliosis with thoracolumbar vertebral anomalies; bilateral distal ulnar hypoplasia, radioulnar dislocation; normal renal ultrasound; ECG normal 1 1 Johan den Dunnen
00406566 FamPat2 PubMed: Kirat 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - RRS height 77.5 cm (<3rd centile), weight 9600 g (<3rd centile), OFC 44 cm (<3rd centile); hypertelorism, depressed nasal root, epicanthal folds, short nose, anteverted nares, long philtrum, downturned corners mouth, enamel dysplasia, short forearms, hypoplastic toe nails; short radius, short ulna, rib fusions, thoracic vertebral anomalies; normal renal ultrasound, ECG normal 1 2 Johan den Dunnen
00406567 FamPat3 PubMed: Kirat 2020 brother M yes Turkey - - - - - RRS weight 2400 g (<3rd centile), height 43 cm (<3rd centile), OFC 34 cm (25th centile); flat face, hypertelorism, depressed nasal root, short nose, anteverted nares, low-set/posteriorly angulated ears, large mouth, downturned corners, gingival hyperplasia, short forearms with Madelung deformity, hypoplastic toe nails; severe micropenis, undescended testis; rib fusion; normal renal ultrasound, ECG normal 1 1 Johan den Dunnen
00406568 family PubMed: Mehawej 2012 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Lebanon - - - - - RRS see paper; ... 4 2 Johan den Dunnen
00406598 Pat1 PubMed: Tamhankar 2014 2-generation family, 1 affected, unaffected parents M no India - - - - - ACH see paper; ..., short at birth; normal motor and mental milestones; height was 67.5 cm (-7.1 SD), short limbs, OFC 47 cm; acromesomelia, facial abnormalities, frontal bossing, prominent eyes, hypertelorism, flat nasal bridge, anteverted nostrils, folded low set ears, tented upper lip, wide mouth, gum hypertrophy suggestive of 'fetal facies'; thoracolumbar scoliosis, small hands, small penis (stretched penile length 1 cm), retractile testes; X-ray large cranium, crowded right sided ribs, absent left ribs 3 and 4, marked thoracic scoliosis to the right, lumbar scoliosis to the left, thoracic and lumbar hemivertebrae, short radius, short ulna; upper limb mesomelia more severe than lower limb; USG normal, ECG normal 1 1 Johan den Dunnen
00406599 Pat2 PubMed: Tamhankar 2014 2-generation family, 2 affected sibs, unaffected parents M - India - - - - - ? see paper; ... 1 2 Johan den Dunnen
00406600 Pat3 PubMed: Tamhankar 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - ? see paper; ... 1 1 Johan den Dunnen
00406601 family PubMed: Brunetti-Pierri 2008 3-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents F;M - United States - - - - - RRS - 1 5 Johan den Dunnen
00406602 Pat1 PubMed: Rai 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes India - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00406603 Pat2 PubMed: Rai 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - India - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00406606 family PubMed: Yang 2020 2-generation family, 3 affected (2 fetuses), unaffected heterozygous carrier parents - - China - - - - - RRS see paper; ... 2 1 Johan den Dunnen
00413454 patient PubMed: Demirkan 2022, Journal: Demirkan 2022 - M yes Turkey - - - - - RRS1 Short stature [-5, 43 standard deviation (SD) score] and low weight (-3. 75 SD score), high forehead, broad wide nasal bone, upturned nose with anteverted nares, long philtrum and tented lips, telecanthus, hypertelorism, low set ears, macrocephaly and a triangular-fish mouth, pectus excavatum, mesomelic shortening of forearm, broad thumbs and other fingers, clinodactyly in left hand, syndactyly ing the second and third toes of the right foot and right cleft hand with absence of third finger. External genitalia revealed micropenis, retractile palpable testis and scrotal hypoplasia. Incomplete bladder duplication 1 1 Juliana Mazzeu
00433116 Pat94,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - IMD neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia 1 1 Johan den Dunnen
00448526 patient PubMed: Yang 2024 - M no - - - - - - RRS1 - 2 1 Juliana Mazzeu
00453804 BAV986 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD - 1 1 Johan den Dunnen
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