All individuals with variants in gene PSMC3

27 entries on 1 page. Showing entries 1 - 27.
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00305391 FamPatIII4 PubMed: Kröll-Hermi 2020 5-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives - yes Turkey - - - - - ? congenital cataract; strabismus; congenital deafness; round ears; synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; no preauricular fibrochondroma; thin upper lip; severe developmental delay; autistic features; peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; depigmented hairs of lower limbs 1 3 Johan den Dunnen
00305392 FamPatIII2 PubMed: Kröll-Hermi 2020 PatIII2 - yes Turkey - - - - - ? congenital cataract; no strabismus; congenital deafness; no round ears; no synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; no preauricular fibrochondroma; thin upper lip; moderate developmental delay; no autistic features; peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; depigmented hairs of lower limbs 1 1 Johan den Dunnen
00305393 FamPatIII7 PubMed: Kröll-Hermi 2020 PatIII7 - yes Turkey - - - - - ? congenital cataract; strabismus; congenital deafness; no round ears; no synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; preauricular fibrochondroma; no thin upper lip; severe developmental delay; autistic features; no peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; no depigmented hairs of lower limbs 1 1 Johan den Dunnen
00449559 - - - M no - white - - - - autism HP:0000252, HP:0000286, HP:0000288, HP:0000316, HP:0000752, HP:0000774, HP:0001249, HP:0001263, HP:0003781, HP:0010864, HP:0100716, HP:0100025, HP:0100716, HP:0001249, HP:0000252, HP:0001263, HP:0000752, HP:0100025, HP:0100716, HP:0000286, HP:0000774, HP:0000316, HP:0003781, HP:0000288 1 1 Marketa Wayhelova
00456306 Pat1 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - NDD developmental delay; speech delay; abnormal behavior 1 1 Johan den Dunnen
00456307 Pat2 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD MRI brain anomalies; gastrointestinal problems; cardiac malformations; growth failure; feeding difficulties; no microcephaly; no seizures; underweight; no short stature 1 1 Johan den Dunnen
00456308 Pat3 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain normal; skeletal malformations; hypotonia/abnormal tone; no gastrointestinal problems; no cardiac malformations; no abnormal behavior; no growth failure; hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456309 Pat4 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD developmental delay; facial dysmorphism; intellectual disability; cardiac malformations; no renal malformations; seizures 1 1 Johan den Dunnen
00456310 Pat5 PubMed: Ebstein 2023 family, 1 affected F - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; no motor delay; no skeletal malformations; hypotonia/abnormal tone; no gastrointestinal problems; no cardiac malformations; no abnormal behavior; no growth failure; hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456311 Pat6 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain normal; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; abnormal behavior; no growth failure; hearing loss; feeding difficulties; no microcephaly; genital abnormalities; renal malformations; seizures; no underweight 1 1 Johan den Dunnen
00456312 Pat7 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; no skeletal malformations; no hypotonia/abnormal tone; no gastrointestinal problems; no cardiac malformations; abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456313 Pat8 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD developmental delay; facial dysmorphism; motor delay; MRI brain anomalies; skeletal malformations; no hypotonia/abnormal tone; no gastrointestinal problems; no abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456314 Pat9 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain normal; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456315 Pat10 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; no motor delay; hypotonia/abnormal tone; gastrointestinal problems; no abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no microcephaly; genital abnormalities; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456316 Pat11 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; no abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; genital abnormalities; seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456317 Pat12 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; no motor delay; no skeletal malformations; no hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; abnormal behavior; no growth failure; hearing loss; feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456318 Pat13 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; no facial dysmorphism; no intellectual disability; no motor delay; MRI brain normal; no hypotonia/abnormal tone; no gastrointestinal problems; cardiac malformations; no abnormal behavior; growth failure; hearing loss; no feeding difficulties; no microcephaly; no seizures; underweight; no short stature 1 1 Johan den Dunnen
00456319 Pat14 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD developmental delay; speech delay; intellectual disability; motor delay; MRI brain anomalies; hypotonia/abnormal tone; no gastrointestinal problems; hearing loss; no seizures; no short stature 1 1 Johan den Dunnen
00456320 Pat15 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - NDD developmental delay; facial dysmorphism; MRI brain anomalies; cardiac malformations; no hearing loss; no genital abnormalities; no renal malformations; no seizures 1 1 Johan den Dunnen
00456321 Pat16 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; no abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; genital abnormalities; renal malformations; seizures; no underweight; short stature 1 1 Johan den Dunnen
00456322 Pat17 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; no genital abnormalities; renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456323 Pat18 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; cardiac malformations; no abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; genital abnormalities; renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456324 Pat19 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; cardiac malformations; growth failure; microcephaly 1 1 Johan den Dunnen
00456325 Pat20 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - NDD developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; no gastrointestinal problems; cardiac malformations; abnormal behavior; no growth failure; no hearing loss; feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456326 Pat21 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; motor delay; skeletal malformations; no hypotonia/abnormal tone; no gastrointestinal problems; abnormal behavior; growth failure; no hearing loss; no feeding difficulties; microcephaly; no genital abnormalities; no renal malformations; no seizures; underweight; short stature 1 1 Johan den Dunnen
00456327 Pat22 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; no facial dysmorphism; intellectual disability; motor delay; no skeletal malformations; no hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; abnormal behavior; growth failure; no hearing loss; no feeding difficulties; microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature 1 1 Johan den Dunnen
00456328 Pat23 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD developmental delay; speech delay; facial dysmorphism; no intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; no hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; no abnormal behavior; growth failure; no hearing loss; feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; underweight; short stature 1 1 Johan den Dunnen
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