All individuals with variants in gene TUSC3

18 entries on 1 page. Showing entries 1 - 18.
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00183054 23033978-Trio39 PubMed: de Ligt 2012 - M - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00275639 FamMR90Pat5 PubMed: Santos-Cortez 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ID OFC 53cm; IQ 40, moderate intellectual disability (HP:0002342); poor speech, seizures, depressive nature 1 2 Johan den Dunnen
00275640 FamMR90Pat6 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 47cm; IQ 25, severe intellectual disability (HP:0010864); aggressive behavior 1 1 Johan den Dunnen
00294602 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00303629 Family_43 PubMed: Makrythanasis 2014 family, 3 affected - yes Jordan - - - - - ? see paper; ..., syndromic intellectual disability/developmental delay 1 3 Johan den Dunnen
00311383 Pat1 PubMed: Granadillo 2020 - M - - white - - - - NDD birth weight normal, length normal; normal height, normal weight, OFC 2.05; developmental delay/intellectual disability; gross motor delay, fine motor delay; speech delay, 2y-first words; poor socialization, attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; abnormal eye convergence, saccadic eye movements, congenital entropion; no musculoskeletal anomalies; normal skin; normal face, frontal bossing, normal eyes, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain Chiari Type 1 malformation, flattening of anterior pituitary; ECG patent foramen ovale, dilated aortic root (z-score=2.4); EKG RV conduction delay; mother is “low functioning”, father has intellectual disability 1 1 Johan den Dunnen
00374565 S-4436 PubMed: Ganapathy 2019 - - - India - - - - - ? attention difficulty, head hitting when angry, strabismus, difficulty in walking, no eye contact and does not recognize family members 1 1 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
00385771 FamPatIV3 PubMed: Ghosh 2017 PatIV3 F yes Pakistan - - - - - ID intellectual disability, mild developmental delay, microcephaly 1 1 Johan den Dunnen
00385772 Fam1PatV1/4 PubMed: Molinari 2008 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes France - - - - - ID see paper; ..., severe intellectual disability, nonprogressive; normal height, normal weight, normal OFC; no malformations, normal metabolic screening (amino acid chromatography, blood lactate and pyruvate levels, liver function, and ammonemia); normal bone X-rays, normal cerebral MRI, normal ECG 1 1 Johan den Dunnen
00385774 FamPatIV4/6/7 PubMed: Garshasbi 2011 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - ID see paper; ..., non-syndromic intellectual disability 1 3 Johan den Dunnen
00385775 family PubMed: Al-Amri 2016 5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Oman - - - - - ID see paper; ..., intellectual disability 1 4 Johan den Dunnen
00385776 family PubMed: Garshasbi 2008 4-generation family, 7 affected (5F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - ID see paper; ..., intellectual disability 1 7 Johan den Dunnen
00385777 family PubMed: Khan 2011 4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - ID see paper; ..., intellectual disability 1 1 Johan den Dunnen
00385778 patient PubMed: Loddo 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Italy - - - - - ID see paper; , intellectual disability 1 1 Johan den Dunnen
00385779 family PubMed: El Chehadeh 2015 6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes France - - - - - ID see paper; ..., intellectual disability 1 2 Johan den Dunnen
00428023 A188 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
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