All individuals with variants in gene ZDHHC9

26 entries on 1 page. Showing entries 1 - 26.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 5 1 Yu Sun
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) 5 1 Yu Sun
00016976 19377144-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016977 19377145-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016978 19377146-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017020 Fam13 PubMed: Tzschach 2015 family, 4 affected males M - Turkey ? - - - - MRX;IDX moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4) 1 4 Andreas Tzschach
00147122 30631761-Pat46_S11 PubMed: Han 2018 - M no Korea - - - - - MRXSR developmental delay, no epilepsy, hypotonia 1 1 Joonhong Park
00183131 25644381-FamP148 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183132 25644381-FamAU3 PubMed: Hu 2016 family, 5 affected, 3 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 5 Johan den Dunnen
00307786 UK10K_FINDWGA5410775 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307787 UK10K_FINDWGA5410704 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307820 UK10K_FINDWGA5411590 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ?, ID - 1 1 Johan den Dunnen
00307983 14DG2158 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Global developmental delay, Gait ataxia, Abnormal facial shape, Macrotia, High, narrow palate, Hypertonia, Hyperreflexia 1 1 Johan den Dunnen
00394439 patient PubMed: Ramos 2022, Journal: Ramos 2022 - M no Brazil - - - - - MRXSR see paper; ..., intellectual disability; early childhood severe growth failure, severe hypotonia, developmental delay; verbally aggressive, antisocial behavior 1 1 Juliana Mazzeu
00394791 Fam152 PubMed: Raymond 2007 3-generation family, 3 affected males, unaffected heterozygous carrier mother M - - - - - - - ID see paper; ... 1 3 Johan den Dunnen
00394792 Fam502 PubMed: Raymond 2007 2-generation family, 2 affected males, unaffected heterozygous carrier mother M - - - - - - - ID see paper; ... 1 2 Johan den Dunnen
00394793 Fam031 PubMed: Raymond 2007 2-generation family, 2 affected males, unaffected heterozygous carrier mother M - - - - - - - ID see paper; ... 1 2 Johan den Dunnen
00394794 Fam576 PubMed: Raymond 2007 4-generation family, 4 affected males, 3 unaffected heterozygous carrier females M - - - - - - - ID see paper; ... 1 4 Johan den Dunnen
00394795 DECIPHER:273862-Pat4 PubMed: Schirwani 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - ID see paper; ..., macrocephaly, frontal bossing, frontal upsweep hair, deep-set eyes, underfolded helices, long nose, mild-moderate impaired intellectual development, delayed speech, significant obsessive behavior, autism spectrum disorder, sleep problems, thin corpus callosum 1 1 Johan den Dunnen
00394796 Fam1PatIII3/Iv3/IV4 PubMed: Schirwani 2018 4-generation family, 3 affected, 2 unaffected heterozygous females M - - - - - - - ID see paper; ... 1 3 Johan den Dunnen
00394814 patient PubMed: Han 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - ID see paper; ..., global developmental delay, no facial dysmorphism, no skeletal abnormalities, hypotonia 1 1 Johan den Dunnen
00420838 206963 - - M no Italy - - - - - MRXSR Obesity, Macrocephaly, Delayed speech and language development, Intellectual disability, Macrotia, Dysarthria, Incisor macrodontia 1 1 Andreas Laner
00427954 Pat6 PubMed: Boone 2010 2-generation family, 2 affected brothers, carrier mother M no United States - - - - - ID see paper; ..., mild developmental delay, mild mental retardation; significant behavioral problems, aggressiveness to others and himself, head banging; significant speech delay; no autistic features; sleep difficulties, disturbances initiating sleep, frequent awakening; normal growth; no dysmorphic features; esotropia; MRI brain 4y-paucity of white matter, patchy white matter hyperintensities on T2 weighted images; brother milder developmental delay 1 2 Johan den Dunnen
00427957 FamP148PatIV2 PubMed: Masurel-Paulet 2014 4-generation family, 3 affected (3M), 3 unaffected carrier females M - France - - - - - ID see paper 1 3 Johan den Dunnen
00469527 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00472489 Pat12 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; tall and thin body habitus; proportionate; global developmental delay; intellectual disability(FSIQ=83); autism; aggressive/violent behavior, self-injurious, attention deficit hyperactivity disorder, anxiety, impulsivity; delayed speech; generalized hypotonia; no seizures; MRI brain normal; congenital ptosis; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; chronic nasal congestion, adenotonsillar hypertrophy; obstructive sleep apnea, sleep disturbance, poor balance, poor coordination, joint hypermobility; dolichocephaly, low anterior hairline, downslanted palpebral fissures, ptosis, hypertelorism, telecanthus, thick arched eyebrows, thick helical cartilage, uplifted left earlobe, high nasal bridge, anteverted nares, micrognathia, thin vermilion, large maxillary central incisors Extremities: pes planus, tapered fingers, single palmar creases chest pectus excavatum 1 1 Johan den Dunnen
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