All individuals with variants in gene IQSEC1

7 entries on 1 page. Showing entries 1 - 7.
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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
00266184 F208PatIV2 PubMed: Ansar 2019 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F - Pakistan - - - - - NDD short stature (146cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; low vision 1 4 Johan den Dunnen
00266185 F208PatIV6 PubMed: Ansar 2019 - F - Pakistan - - - - - NDD short stature (150cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; lower limbs weakness 1 1 Johan den Dunnen
00266186 Fam2PatV-1 PubMed: Ansar 2019 5-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives M - Saudi Arabia - - - - - NDD short stature (120cm), head circumference 48cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; multiple hyperpigmented café au lait spots in his lower back and upper thigh, truncal ataxia and ataxic gait with frequent falls 1 4 Johan den Dunnen
00266187 Fam2PatV-6 PubMed: Ansar 2019 - M - Saudi Arabia - - - - - NDD short stature (148cm), head circumference 53cm (50th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour aggressive, ADHD and hyperactivity; MRI normal; unsteady gait 1 1 Johan den Dunnen
00266188 Fam2PatV-8 PubMed: Ansar 2019 - M - Saudi Arabia - - - - - NDD short stature (119cm), head circumference 49cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; unsteady gait 1 1 Johan den Dunnen
00314871 Trio34 PubMed: Zhu 2015 - M - United States - - - - - ? Overgrowth, dysmorphic features, mild developmental delays, and macrocephaly. 2 1 Johan den Dunnen
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