All individuals with variants in gene STIL

7 entries on 1 page. Showing entries 1 - 7.
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00089033 - - - M no (Belgium) white - - - termination of pregnancy MCPH7 prenatal microcephaly with simplified gyral pattern, partial agenesis of corpus callosum, pachygyria 2 2 Francesca Cristofoli
00150164 26539891-FamBAB4882 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, seizures, microcephaly 2 1 Johan den Dunnen
00289872 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307975 17DG0779 PubMed: Anazi 2017 simplex case M - - - - - - - ID see paper; ..., Intellectual disability, Attention deficit hyperactivity disorder, Failure to thrive, Microcephaly, Abnormal facial shape, Partial agenesis of corpus callosum, Holoprosencephaly, Pachygyria, Absent septum pellucidum, Delayed motor and language development; Ataxia, Dystonia, Spasticity, Short stature 1 1 Johan den Dunnen
00316025 Fam1PatII1 PubMed: Zaharieva 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) white - - - - ? see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol 2 1 Johan den Dunnen
00387901 M9100011 PubMed: Hu 2019 family, 2 affected individuals, third cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00433501 FamM-8900187 PubMed: Papari 2013 6-generation family, 7 affected (4F, 3M), unaffected heterozygous parents/relatives F;M yes Iran - - - - - microcephaly microcephaly, mild intellectual disability 1 7 Johan den Dunnen
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