All individuals with variants in gene STT3A

23 entries on 1 page. Showing entries 1 - 23.
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00290285 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00385747 Fam1PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected mother/2 sons F - - Europe - - - - CDG no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); meta-physeal dysplasia; osteoarthritis; muscle cramps; no muscle hypertrophy; mild intellectual disability 1 3 Johan den Dunnen
00385748 Fam1PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M - - Europe - - - - CDG no intrauterine growth retardation; normal; no long face; no high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability 1 1 Johan den Dunnen
00385749 Fam1PatII.3 PubMed: Wilson 2021, Journal: Wilson 2021 son M - - Europe - - - - CDG no intrauterine growth retardation; OFC 95th; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; long/protruding ears; no thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); short arms; osteoarthritis; muscle cramps; muscle hypertrophy; mild intellectual disability 1 1 Johan den Dunnen
00385750 Fam2PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected father/daugther M - - Europe - - - - CDG no intrauterine growth retardation; OFC >95th; no long face; high anterior hairline; short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); no skeletal abnormalities; osteoarthritis; muscle cramps; no muscle hypertrophy; no intellectual disability 1 2 Johan den Dunnen
00385751 Fam2PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 daugther F - - Europe - - - - CDG no intrauterine growth retardation; 75th pc; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; abnormal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy 1 1 Johan den Dunnen
00385752 Fam3PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; abnormal fat-distribution; no motor developmental delay; mild speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; MRI brain persistent cavum septum pellucidum; obesity; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; eczema, hyper-trichosis 1 1 Johan den Dunnen
00385753 Fam4PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; no speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-3SD); epi-metaphyseal dysplasia; no osteoarthritis; muscle cramps; muscle hypertrophy; moderate intellectual disability; normal pregnancy 1 1 Johan den Dunnen
00385754 Fam5PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; no osteoarthritis; no muscle cramps; intellectual disability 1 1 Johan den Dunnen
00385755 Fam6PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - CDG intrauterine growth retardation; OFC 3rd; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; long/protruding ears; thin upper lip vermilion; prognathism; inverted nipples; abnormal fat-distribution; severe motor developmental delay; speech delay, nonverbal; learning problems; increased muscle tone, spastic diplegia; aggressivity; strabismus, retinal dystrophy; MRI brain arachnoid cyst, large posterior fossa; failure to thrive; short stature (-2SD); spondylo-metaphyseal dysplasia brachydactyly; no osteoarthritis; muscle cramps; muscle hypertrophy (biceps/quadriceps); severe intellectual disability; mastoid granulomatosis 1 1 Johan den Dunnen
00385756 Fam7PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected M no Turkey - - - - - CDG no intrauterine growth retardation; OFC 25th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (<-2SD); scoliosis, dysplastic L5 vertebra; no osteoarthritis; no muscle cramps; muscle hypertrophy (biceps/quadriceps); no intellectual disability; easy bruising 1 1 Johan den Dunnen
00385757 Fam8PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected father/daugther/2 sons M no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >98th; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; learning problems; aggressivity; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; delayed puberty dysarthria 1 4 Johan den Dunnen
00385758 Fam8PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; mild motor developmental delay; moderate speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; constipation; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; moderate intellectual disability; delayed puberty 1 1 Johan den Dunnen
00385759 Fam8PatII.2 PubMed: Wilson 2021, Journal: Wilson 2021 son M no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >99th; long face; high anterior hairline; no short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; inverted nipples; normal fat-distribution; moderate motor developmental delay; speech delay, nonverbal; learning problems, autism; no increased muscle tone, hypotonia; no behavior abnormalities; strabismus; MRI brain perinatal subdural hematoma; no short stature; delayed closure of large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy; severe intellectual disability 1 1 Johan den Dunnen
00385760 Fam8PatII.3 PubMed: Wilson 2021, Journal: Wilson 2021 daugther F no Australia Anglo-Australian - - - - CDG no intrauterine growth retardation; OFC >99th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild-moderate motor developmental delay; mild-moderate speech delay; learning problems; no increased muscle tone, hypotonia; no behavior abnormalities; no strabismus; no short stature; large anterior fontanelle; no osteoarthritis; no muscle cramps; no muscle hypertrophy 1 1 Johan den Dunnen
00385761 Fam9PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected mother/son F no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; –; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; muscle cramps; no muscle hypertrophy; no intellectual disability; spherocytosis 1 2 Johan den Dunnen
00385762 Fam9PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M no - Europe - - - - CDG no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no increased muscle tone; jaundice; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; spherocytosis 1 1 Johan den Dunnen
00385763 Fam1Pat1 PubMed: Shrimal 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents; brother M yes Pakistan - - - - - CDG no intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, feeding problems, no respiratory difficulties, intellectual disability, cerebellar atrophy, seizures/epilepsy, weak visual tracking, no optic nerve atrophy, hypotonia, gastrointestinal symptoms/G-Tube, no liver involvement, no thrombocytopenia, no genital abnormalities 1 2 Johan den Dunnen
00385766 FamPatIV1 PubMed: Ghosh 2017 4-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - CDG see paper; ..., microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; abnormal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy 1 7 Johan den Dunnen
00385767 FamPatIV2 PubMed: Ghosh 2017 PatIV2 M yes Pakistan - - - - - CDG see paper; ..., no microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; normal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy 1 1 Johan den Dunnen
00385768 FamPatIII7 PubMed: Ghosh 2017 PatIII7 F yes Pakistan - - - - - CDG see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy 1 1 Johan den Dunnen
00385769 FamPatIII8 PubMed: Ghosh 2017 PatIII8 F yes Pakistan - - - - - CDG see paper; ..., no microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; no self-injurious behavior; sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy 1 1 Johan den Dunnen
00385770 FamPatIII9 PubMed: Ghosh 2017 PatIII9 F yes Pakistan - - - - - CDG see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; self-injurious behavior; no sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy 1 1 Johan den Dunnen
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