All individuals with variants in gene SMC1A

88 entries on 1 page. Showing entries 1 - 88.
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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) 3 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) 3 1 Yu Sun
00019859 - PubMed: Gilissen 2014 - F ? - - - - - - ID Severe ID with epilepsy. No speech. Short stature, microcephaly and enlarged ventricles and hypertrophy of the cerebellar vermis. Hypotonia, cleft palate, cataract, scoliosis and stereotypic movements. Dysmorphic features included a low frontal-temporal hairline, deep-set eyes, a flat midface, long narrow ears, a long nose with a high bridge, a short philtrum, an everted lower lip and a prominent jaw. In addition, she had scoliosis, short narrow hands, tapered fingers and several contractures. 1 1 Marianne Vos (LOVD-team)
00019912 - PubMed: Gilissen 2014 - ? ? - - - - - - ID severe ID, severe epilepsy, Rett-like phenotype, motor handicap, severe feeding difficulties, progressive scoliosis 1 1 Marianne Vos (LOVD-team)
00050409 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? conductive hearing impairment, highly arched eyebrow, abnormal location of ears, generalized hirsutism, synophrys, diabetes mellitus, hypothyroidism 1 1 Johan den Dunnen
00050664 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - ? delayed speech and language development, abnormal facial shape, microcephaly, intrauterine growth retardation, global developmental delay, clinodactyly of the 5th finger, persistence of primary teeth, nasal speech, brachydactyly syndrome 1 2 Johan den Dunnen
00080991 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CDLS2 Cornelia de Lange syndrome 2 (OMIM:300590) 1 1 Daniel Trujillano
00179462 ? - - F - Portugal - - - - - CDLS mild; facial features; no facial cleft; no genital anomalies; Yc; no congenital heart defects; hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; upper limb defects small hands only; no microcephaly; no urinary anomalies 1 1 Jorge Oliveira
00179463 19377476-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ID - 1 1 Lucy Raymond
00179464 16604071.Fam1 PubMed: Musio 2006 3-generation family, 3 affecteds (2 brothers and first cousin), 3 non-affected female carriers M - (Italy) - - - - - CDLS - 1 6 Johan den Dunnen
00179465 16604071.Fam2-II.3 PubMed: Musio 2006 - M - (Italy) - - - - - CDLS - 1 1 Johan den Dunnen
00179466 16604071.3P PubMed: Deardorff 2007 - F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179467 16604071.4P PubMed: Deardorff 2007 - M - - - - - - - CDLS - 1 1 Johan den Dunnen
00179468 16604071.5P PubMed: Deardorff 2007 - M - - - - - - - CDLS - 1 1 Johan den Dunnen
00179469 16604071.6P PubMed: Deardorff 2007 inherited from mildly affected mother M - - - - - - - CDLS - 1 1 Johan den Dunnen
00179470 16604071.7P PubMed: Deardorff 2007 sister of16604071.7S F - - - - - - - CDLS - 1 2 Johan den Dunnen
00179471 16604071.7S PubMed: Deardorff 2007 sister of 16604071.7P F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179472 16604071.8P PubMed: Deardorff 2007 sister of 16604071.8S F - - - - - - - CDLS - 1 2 Johan den Dunnen
00179473 16604071.8S PubMed: Deardorff 2007 sister of 16604071.8P F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179474 16604071.9P PubMed: Deardorff 2007 - F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179475 16604071.10P PubMed: Deardorff 2007 - F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179476 16604071.11P PubMed: Deardorff 2007 - F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179477 16604071.12P PubMed: Deardorff 2007 - F - - - - - - - CDLS - 1 1 Johan den Dunnen
00179478 17221863-Pat2 PubMed: Borck 2007 - M - (France) - - - - - CDLS - 1 1 Bert Redeker
00179479 17221863-Pat1 PubMed: Borck 2007 - - - (France) - - - - - CDLS - 1 1 Bert Redeker
00179480 - Redeker (unpublished) - M - Netherlands - - - - - CDLS - 1 1 Bert Redeker
00179481 - Redeker (unpublished) - M - Netherlands - - - - - CDLS - 1 1 Bert Redeker
00179482 - Redeker (unpublished) - F - Netherlands - - - - - CDLS - 1 1 Bert Redeker
00179483 19701948-Pat3 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179484 19701948-Pat5 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179485 19701948-Pat6 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179486 19701948-Pat7 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179487 19701948-Pat10 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179488 19701948-Pat11 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179489 19701948-Pat13 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179490 19701948-Pat15 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179491 19701948-Pat16 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179492 19701948-Pat18 PubMed: Liu 2009 - F - - - - - - - CDLS - 1 1 Bert Redeker
00179493 - Redeker (unpublished) - M - Netherlands - - - - - CDLS - 1 1 Bert Redeker
00179494 - Redeker (unpublished) - F - Netherlands - - - - - CDLS - 1 1 Bert Redeker
00179495 Pié C30 PubMed: Pié 2010 - M - Spain - - - - - CDLS no facial cleft; genital anomalies; congenital heart defects; no hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; no upper limb defects; microcephaly; urinary anomalies 1 1 Bert Redeker
00179496 Pié C13 PubMed: Pié 2010 - F - Spain - - - - - CDLS facial cleft; genital anomalies; no congenital heart defects; no hirsutism; intrauterine growth retardation; no post-natal growth retardation; upper limb defects digits; microcephaly; urinary anomalies 1 1 Bert Redeker
00179497 Pié C2 PubMed: Pié 2010 - M - Romania - - - - - CDLS no facial cleft; no genital anomalies; congenital heart defects; hirsutism; no intrauterine growth retardation; post-natal growth retardation; upper limb defects digits; microcephaly; no urinary anomalies 1 1 Bert Redeker
00179498 Limongelli 2010 PubMed: Limongelli 2010 - F - Italy - - - - - CDLS intrauterine growth restriction (from 3rd month of pregnancy); 6y-weight, height and head circumference <3rd centile; frequent respiratory infections; severe gross motor delay, 4y-wheelchair, no speech; hypertrophic cardiomyopathy; synophrys; downslanting palpebral fissures, long curly eyelashes, thin vermilion (upper lip); hand and feet length <3rd centile; ptosis 1 1 Bert Redeker
00179499 Gervasini 1 PubMed: Gervasini 2013 - M - Italy - - - - - CDLS speech >4y; facial features; congenital heart defects; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit >20m 1 1 Bert Redeker
00179500 Gervasini 2 PubMed: Gervasini 2013 - F - - North Africa - - - - CDLS speech >4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Moderate intellectual disability (IQ:35-50); sit 9m-20m; walking 18m-42m 1 1 Bert Redeker
00179501 Gervasini 3 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit 9m-20m; walking 18m-42m 1 1 Bert Redeker
00179502 Gervasini 4 PubMed: Gervasini 2013 - F - Switzerland - - - - - CDLS speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Mild intellectual disability (IQ:50-80) 1 1 Bert Redeker
00179503 Gervasini 5 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS speech >4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; milestones in motor development delayed, sit >20m, walk >42m; weight, height and head circumference 50th–95th centile; facial dysmorphism (like CdLS), arched eyebrows, thin vermillion (upper lip), cleft palate; neurosensory hearing loss; astigmatism; corneal ulcers; needed assisted feeding 1 1 Bert Redeker
00179504 Gervasini 6 PubMed: Gervasini 2013 - F - Chile - - - - - CDLS speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; sit 9m-20m; walking >42m 1 1 Bert Redeker
00179505 Gervasini 7 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS speech 2y-4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; Moderate intellectual disability (IQ:35-50) 1 1 Bert Redeker
00179506 Gervasini 8 PubMed: Gervasini 2013 - F - Italy - - - - - CDLS speech 2y-4y; facial features; no intrauterine growth retardation; no lower limb defects; no upper limb defects; Mild intellectual disability (IQ:50-80); sit 9m-20m; walking >42m 1 1 Bert Redeker
00179507 - Redeker (unpublished) - F - Denmark - - - - - CDLS - 1 1 Bert Redeker
00179508 - Redeker (unpublished) - M - Belgium - - - - - CDLS - 1 1 Bert Redeker
00179509 Pat17 PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M no Turkey - - - - - ID born 34w Cesarean section, low birth measurements, weight 1180g (<3rd centile), length 35 cm (<3rd centile), OFC 35 cm (<3rd centile), congenital heart disease, anomalous aortic arch, atrial septal defect, aberrant subclavian artery, cryptorchidism, sensorineural hearing loss, bilateral inguinal hernias; 5y8m-short stature (101 cm, <3rd centile), borderline microcephaly (49.5 cm, 3rd centile), facial dysmorphism, triangular face, downslanting palpebral fissures, strabismus, ptosis, small nose, anteverted nares, thin upper lip, dysplastic, low-set posteriorly rotated ears; single transverse palmar creases hands, thin legs, no hand or foot malformations; psychomotor development severely delayed, unable to walk without support, no speech 1 1 Andreas Tzschach
00234359 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Seizures (HP:0001250); Downslanted palpebral fissures (HP:0000494); Highly arched eyebrow (HP:0002553); Laterally extended eyebrow (HP:0011230); Long philtrum (HP:0000343); Long eyelashes (HP:0000527); Thin upper lip vermilion (HP:0000219); High forehead (HP:0000348); Short stature (HP:0004322) 1 1 IMGAG
00269488 - PubMed: Minardi 2020 - F no Italy - - - - - EIEE Epileptic Encephalopaty (HP:0200134) 1 1 Francesca Bisulli
00302947 Pat3 PubMed: Fieremans 2016 - F - - - - - - - ID intrauterine growth restriction (from 33w); 10m-weight, height and head circumference <3rd centile; 7y-microcephaly, weight <<3rd centile; severe gross motor delay, dystonic-hypotonic infantile cerebral palsy, hypertonia (since birth), no speech; atrial septal defect (fossa oval), pulmonary stenosis, mild aortic coarctation; synophrys; hirsutism (from birth); short palpebral fissures, long eyelashes, thin lips; hallux valgus (bilateral), feet with talus valgus reducible, dysplastic nails (some), fifth finger clinodactyly; gastroesophageal reflux; high arched palate; mild retrognatia; hearing loss (50-60%); precocious pubarche; cerebral NMR normal 1 1 Johan den Dunnen
00303059 Pat104 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Onset; age onset infantile 1 1 Johan den Dunnen
00315048 GDB1404 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00320163 - - - F - - - - - - - ? Cyanosis (HP:0000961); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Increased serum lactate (HP:0002151); Frontotemporal cerebral atrophy (HP:0006892); Focal seizures, afebril (HP:0040168) 1 1 IMGAG
00374505 S-5036 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay. Brain MRI shows semilobar holoprosencephaly with colpocephaly 1 1 Johan den Dunnen
00374506 S-5409 PubMed: Ganapathy 2019 - - - India - - - - - ? Inattention, poor eye contact, multiple mongoloid spots, hypotonia, hypertrichosis and epileptic encephalopathy with mild phenotypes of CdLS. 1 1 Johan den Dunnen
00401519 145P - - F no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00412362 Fam6 PubMed: Halvardson 2016 - F - Sweden - - - - - NDD psychomotor developmental dealy, generalized epilepsy, delayed speech development, encephalopathy 1 1 Johan den Dunnen
00436335 FamBAB4135 PubMed: Yuan 2019 2-generation family, 2 affected, unaffected heterozygous mother M - United States - - - - - CDLS - 1 2 Johan den Dunnen
00436336 FamBAB4136 PubMed: Yuan 2019 sibling M - United States - - - - - CDLS - 1 1 Johan den Dunnen
00436337 BAB3623 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - CDLS - 1 1 Johan den Dunnen
00436338 BAB5452 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - CDLS - 1 1 Johan den Dunnen
00436339 100976P PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - CDLS - 1 1 Johan den Dunnen
00436340 LAT1403 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - CDLS - 1 1 Johan den Dunnen
00436353 SMC1A-Pat1 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436354 SMC1A-Pat2 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS, MYOP - 1 1 Johan den Dunnen
00436355 SMC1A-Pat3 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436356 SMC1A-Pat4 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS, CF - 1 1 Johan den Dunnen
00436357 SMC1A-Pat5 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ?, CDLS - 1 1 Johan den Dunnen
00436358 SMC1A-Pat6 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CDLS, MD - 1 1 Johan den Dunnen
00436359 SMC1A-Pat7 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436360 SMC1A-Pat8 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436361 SMC1A-Pat9 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436362 SMC1A-Pat10 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436363 SMC1A-Pat11 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436364 SMC1A-Pat12 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436365 SMC1A-Pat13 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CDLS - 1 1 Johan den Dunnen
00436366 SMC1A-Pat14 PubMed: Yuan 2019 2-generation family, 1 affected, mildly affected parant M - - - - - - - CDLS - 1 1 Johan den Dunnen
00438297 Pat15 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0000252 microcephaly; HP:0000750 delayed speech and language development; HP:0001249 intellectual disability 1 1 Johan den Dunnen
00438630 HSC0107 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00444353 277705 - - F ? India - - - - - CDLS2 Global developmental delay, Delayed speech and language development, Intellectual disability, Failure to thrive, Short stature, Microcephaly, Decreased body weight, Limited elbow extension 1 1 Andreas Laner
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