All individuals with variants in gene PDS5A

15 entries on 1 page. Showing entries 1 - 15.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00179540 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 14 Johan den Dunnen
00179541 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 85 Johan den Dunnen
00179542 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 62 Johan den Dunnen
00179543 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 3 Johan den Dunnen
00179544 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 18 Johan den Dunnen
00179545 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 18 Johan den Dunnen
00179546 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 1 Johan den Dunnen
00179547 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 1 Johan den Dunnen
00179548 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 3 Johan den Dunnen
00179549 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 1 Johan den Dunnen
00179550 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 1 Johan den Dunnen
00179551 19412548-Pat PubMed: Zhang 2009 - - - United States - - - - - CDLS - 1 1 Johan den Dunnen
00436301 Pat13 PubMed: Yuan 2019 - F - - - - - - - ? no synophrys; depressed nasal bridge, high palate; developmental delay, intellectual disability; gastroesophageal reflux; failure to thrive; weight <2nd, length 3rd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; no seizures; hypertonia; no hypotonia; no brachycephaly; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; no hirsutism; no hairline; no cutis marmorata; no strabismus; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; gastroesophageal reflux; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain cerebellar tonsillar ectopy, o/w normal; ECG patent foramen ovale vs atrial septal defect;, o/w normal 1 1 Johan den Dunnen
00438566 HSC0009 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
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