All individuals with variants in gene STAG1

40 entries on 1 page. Showing entries 1 - 40.
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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) 1 1 Yu Sun
00019901 - PubMed: Gilissen 2014 - ? ? - - - - - - ID Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features. 3 1 Marianne Vos (LOVD-team)
00226144 - - - M - - - - - - - ? Cerebellar malformation (HP:0002438); Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of movement (HP:0100022); Dyskinesia (HP:0100660); Muscular hypotonia (HP:0001252) 1 1 IMGAG
00248483 - - - M - - - - - - - - HP:0001263 (Global developmental delay); HP:0100851 (Abnormal emotion/affect behavior); HP:0001344 (Absent speech) 1 1 Andreas Laner
00301261 - PubMed: Minardi 2020 - M - Italy - - - - - EIEE - 1 1 Francesca Bisulli
00376132 - - - F no Italy - - - - - NDD Relative microcephaly, prominent forehead, deep set eyes, asymmetrical nasal tip, raised ear lobe, mild micrognathia, widely spaced teeth, pectus excavatum, clinodactyly of the 5th finger and persistence of finger fetal pads. 1 1 Pietro Palumbo
00431832 214203 - - M no Germany - - - - - MRD47 Intellectual disability, Dry skin, Obesity, Epileptic spasm, Visual impairment, Delayed speech and language development, Hypoplasia of the corpus callosum 1 1 Andreas Laner
00435474 265451 - - F no ? (unknown) - - - - - MRD47 Intrauterine growth retardation, Delayed speech and language development, Global developmental delay, Intellectual disability, Abnormal facial shape, Tooth malposition 1 1 Andreas Laner
00436280 DECIPHER250264 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - United Kingdom (Great Britain) - - - - - ? - 1 1 Johan den Dunnen
00436281 DECIPHER252519 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - United Kingdom (Great Britain) - - - - - ? - 1 1 Johan den Dunnen
00436282 DECIPHER255849 PubMed: Yuan 2019 - F - United Kingdom (Great Britain) - - - - - ? - 1 1 Johan den Dunnen
00436283 DECIPHER265044 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - United Kingdom (Great Britain) - - - - - ? intellectual disability, microcephaly, muscular hypotonia 1 1 Johan den Dunnen
00436284 DECIPHER265582 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - United Kingdom (Great Britain) - - - - - ? hypoplastic philtrum, intellectual disability, upslanted palpebral fissure 1 1 Johan den Dunnen
00436285 DECIPHER267690 PubMed: Yuan 2019 - M - United Kingdom (Great Britain) - - - - - ? - 1 1 Johan den Dunnen
00436286 DECIPHER289969 PubMed: Yuan 2019 - F - United Kingdom (Great Britain) - - - - - ? severe intellectual disability, motor deterioration, seizures 1 1 Johan den Dunnen
00436287 DECIPHER308397 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - United Kingdom (Great Britain) - - - - - ? autistic behavior, cleft palate, hypospadias, micrognathia, motor delay, Pierre-Robin sequence 1 1 Johan den Dunnen
00436288 Pat4 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - - - - - - - ? multiple congenital anomalies 1 1 Johan den Dunnen
00436289 Pat5 PubMed: Yuan 2019 - F - - - - - - - ? developmental delay 1 1 Johan den Dunnen
00436290 Pat6 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - - - - - - - ? developmental delay, dysmorphic features 1 1 Johan den Dunnen
00436293 Pat1 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? synophrys; long curly eyelashes; developmental delay, intellectual disability; abnormal elbow extension, 2-3 toe syndactyly; cutis marmorata; submucosal cleft; no failure to thrive; weight 97th, length 67th, OFC >98th; no short stature; no microcephaly; motor delay; severe speech delay; long curly eyelashes; low-set ears; no microtia; dysmorphic ears; no long/smooth philtrum; cleft lip/palate; no hypoplastic nails; significant cutis marmorata; strabismus; no hearing loss; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; 2-3 toe syndactyly; MRI brain increased T2 signal in frontal and parietal white matter; mild hallux valgus; no acute or healing injury; ECG normal 1 1 Johan den Dunnen
00436294 Pat2 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - - - - - - - ? no synophrys; depressed broad nasal bridge, high palate, small chin; developmental delay; small hands; 5th finger clinodactyly, abnormal palmar crease,2-3 syndactyly; seizures,ptosis,tear duct malformation; cryptorchidism, hypoplastic male genitalia, renal malformation; failure to thrive; weight 93rd, length 5th, OFC 2nd; short stature; microcephaly; motor delay; speech delay; behavioral problems; seizures (during infancy); no hypertonia; hypotonia; ptosis; depressed/broad nasal bridge; no low-set ears; no microtia; no dysmorphic ears; high arched palate; no cleft lip/palate; micrognathia; no hearing loss; patent ductus arteriousus; hypoplastic male genitalia; cryptorchidism (left); horseshoe kidney; no scoliosis; no micromelia; no phocomelia; brachydactyly; fifth finger clinodactyly; single transverse palmar crease; 2-3 toe syndactyly; MRI brain ectopic posterior pituitary 1 1 Johan den Dunnen
00436295 Pat3 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? synophrys; depressed broad nasal bridge,high palate,widely spaced teeth; developmental delay, intellectual disability; autistic like, aggression; seizures, hirsutism, major eye malformation; no failure to thrive; weight 88th, length 11th, OFC 25-50th; no short stature; no microcephaly; motor delay; speech delay; autism spectrum disorder; behavioral problems; seizures; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; 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; widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; hirsutism; no hairline; no cutis marmorata; no myopia; strabismus , exotropia; 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; no gastroesophageal reflux; 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 moderately small optic nerves and chiasm, mild diffuse thinning of the corpus callosum, mild prominence of the left lateral ventricle, likely reflecting mild left-sided periventricular white matter volume loss or hypogenesis. 4. Mildly small pons.; ECG normal 1 1 Johan den Dunnen
00436306 Pat1 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., intrauterine growth retardation; birth weight 1st, length 25th, OFC 1st; weight SD , length SD −2, OFC SD −3; neonatal gastro-oesophageal reflux; moderate intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436307 Pat2 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ? see paper; ..., intrauterine growth retardation; birth weight 1st, length 3rd, OFC <1st; weight SD 0, length SD 0, OFC SD −4; neonatal feeding difficulties; severe intellectual disability; epilepsy; autistic features; no hyperlaxity; high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436308 Pat3 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., pregnancy normal; birth weight 3rd; weight SD 0, length SD 0, OFC SD 0; neonatal feeding difficulties; severe intellectual disability; no epilepsy; autistic features; no hyperlaxity; MRI brain atrophy right hemisphere; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436309 Pat4 PubMed: Lehalle 2017 parents first-cousins parents M - - - - - - - ? see paper; ..., intrauterine growth retardation; birth weight 3rd; weight SD −2.5, length SD −1, OFC SD −1.5; neonatal hypotonia; severe intellectual disability; epilepsy; no autistic features; hyperlaxity; MRI brain cerebral atrophy, predominant on the vermis; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436310 Pat5a PubMed: Lehalle 2017 family, 2 affected (F, M), family history of intellectual disability, six members carry the same STAG1 deletion M - - - - - - - ? see paper; ..., 14d-weight 25-50th, length 75th, OFC 98th; weight SD −1, length SD 0, OFC SD −2; mild intellectual disability; no epilepsy; no autistic features; no hyperlaxity; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows 1 2 Johan den Dunnen
00436311 Pat5b PubMed: Lehalle 2017 maternal half sister F - - - - - - - ? see paper; ..., pregnancy normal; birth weight 9th-25th; weight SD 0, OFC SD −3; neonatal early feeding difficulties, suspected gastro-oesophageal reflux; mild intellectual disability; no epilepsy; no autistic features; no hyperlaxity; no high nasal bridge; deep-set eyes; no wide mouth; no widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436312 Pat6 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., increased nuchal translucency, hydramnios, ventriculo-septal defect, single umbilical artery, asymmetric cerebral ventricles, small periventricular cysts; birth weight 70th, length 80th, OFC 80th; weight SD 0, length SD −1, OFC SD +1; neonatal gastro-oesophageal reflux, vesicoureteral reflux; intellectual disability; epilepsy; no autistic features; no hyperlaxity; MRI brain dilatation of ventricles and pericerebral space, partial vermis hypoplasia; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436313 Pat7 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., pregnancy normal; birth weight 70th, length 99th, OFC 70th; weight SD 0, length SD 0, OFC SD −1; neonatal period normal; moderate intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; high nasal bridge; deep-set eyes; no wide mouth; no widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436314 Pat8 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., pregnancy normal; birth weight 25th, length 50th, OFC 75th; weight SD −1, length SD 0, OFC SD −1; neonatal period normal; severe intellectual disability; epilepsy; no autistic features; hyperlaxity; MRI brain global brain atrophy; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436315 Pat9 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ? see paper; ..., pregnancy normal; birth weight 25th; weight SD −1, length SD 0, OFC SD −1.5; neonatal feeding difficulties; moderate intellectual disability; no epilepsy; no autistic features; hyperlaxity; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00436316 Pat10 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., pregnancy normal; birth weight 50th; weight SD +1, length SD −1, OFC SD −1; neonatal hypotonia, feeding difficulties, gastro-oesophageal reflux; mild developmental delay; epilepsy; autistic features; no hyperlaxity; MRI brain small area of heterotopia; no high nasal bridge; no deep-set eyes; no wide mouth; no widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436317 Pat11 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents, brother with ADHD F - - - - - - - ? see paper; ..., pregnancy normal; birth weight 60th, length 70th, OFC 30th; weight SD 0, length SD 0, OFC SD 0; neonatal period normal; intellectual disability; staring spells; autistic features; no hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436318 Pat12 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., pregnancy normal; birth weight 3rd; weight SD 0, length SD 0, OFC SD +1; neonatal period normal; mild intellectual disability; epilepsy; autistic features; no hyperlaxity; MRI brain Chiari I; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436319 Pat13 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., abnormal genitalia; birth weight 30th, length 20th, OFC 75th; weight SD 0, length SD −1, OFC SD −0.5; neonatal hypotonia, feeding difficulties; mild intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436320 Pat14 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., pregnancy normal; birth weight 90th; weight SD −1, length SD 0, OFC SD 1; gastro-oesophageal reflux, feeding difficulties; mild developmental delay; no epilepsy; no autistic features; hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436321 Pat15 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., pregnancy normal; birth weight 50th; length SD 0, OFC SD −1; neonatal vomiting; severe intellectual disability; no epilepsy; autistic features; no hyperlaxity; no high nasal bridge; no deep-set eyes; no wide mouth; no widely spaced central incisors; no thin eyebrows 1 1 Johan den Dunnen
00436322 Pat16 PubMed: Lehalle 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? see paper; ..., pregnancy normal; birth weight 75th, length 75th, OFC 10th; weight SD +1.5, length SD +1.5, OFC SD −1; neonatal hypotonia; moderate intellectual disability; epilepsy; autistic features; hyperlaxity; MRI brain normal; no high nasal bridge; no deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows 1 1 Johan den Dunnen
00464708 - - - M no China Chinese - - - - MRD47 developmental delay, growth retardation, motor and speech delay 1 1 Ke Wu
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