All individuals with variants in gene MRPL49

15 entries on 1 page. Showing entries 1 - 15.
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00401294 FamPatIII5 PubMed: Shao 2016, PubMed: Thomas 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - ? see paper; ..., primary ovarian failure, intellectual disability, sensorineural hearing loss, kyphosis, significant speech delay 1 1 Johan den Dunnen
00464674 Fam1PatII1 PubMed: Thomas 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., primary ovarian insufficiency, bilateral sensorineural hearing loss, microcephaly, mild learning disability 1 2 Johan den Dunnen
00464675 Fam1PatII2 PubMed: Thomas 2025 sister F yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., primary ovarian insufficiency, bilateral sensorineural hearing loss, microcephaly, mild learning disability 1 1 Johan den Dunnen
00464676 Fam2PatII2 PubMed: Thomas 2025 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents M yes Pakistan - - - - - ? see paper; ..., no bilateral sensorineural hearing loss, mild microcephaly, night blindness; intellectual disability, facial dysmorphism; bone abnormalities, borderline short stature (−1.8 SD), seizures 1 3 Johan den Dunnen
00464677 Fam2PatII3 PubMed: Thomas 2025 sister F yes Pakistan - - - - - ? see paper; ..., no primary ovarian insufficiency, normal menstrual cycle; no bilateral sensorineural hearing loss, mild microcephaly, intellectual disability, facial dysmorphism 1 1 Johan den Dunnen
00464678 Fam2PatII6 PubMed: Thomas 2025 sister (deceased) F yes Pakistan - - - - - ? see paper; ..., no primary ovarian insufficiency, no bilateral sensorineural hearing loss, mild microcephaly, learning disability 1 1 Johan den Dunnen
00464679 Fam3PatII1 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - ? see paper; ..., birth at term, weight 2.25 kg (−3.37 SD); bilateral sensorineural hearing loss, microcephaly, mild learning disability; delayed attainment milestones, 3y6m-stand with support; 5y-speech only monosyllable; episodes of fever associated with loss of consciousnes; 5y-weight 12.54 kg (−2.6 SD), height 103 cm with contractures (−1.6 SD), OFC 47 cm (−3.2 SD); small forehead, plagiocephaly, low anterior hairline, metopic prominence, strabismus, orofacial dystonia; hypertonia (lower limbs > upper limbs), tremors. 1 1 Johan den Dunnen
00464680 Fam4PatII1 PubMed: Thomas 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - ? see paper; ..., bilateral sensorineural hearing loss, no microcephaly, mild learning disability, no retinal dysfunction 1 2 Johan den Dunnen
00464681 Fam4PatII2 PubMed: Thomas 2025 sister F yes Turkey - - - - - ? see paper; ..., bilateral sensorineural hearing loss, no microcephaly, mild learning disability, no retinal dysfunction 1 1 Johan den Dunnen
00464682 Fam5PatII2 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - ? see paper; ..., 2d-hypoglycemia; primary ovarian insufficiency, bilateral sensorineural hearing loss, mild learning disability, no retinal dysfunction; 6y6m-height 141cm (−2.15 SD); 12y- no menarche, hypergonadotrophic hypogonadism 1 1 Johan den Dunnen
00464683 Fam6PatII1 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - ? see paper; ..., primary ovarian insufficiency, no bilateral sensorineural hearing loss, mild learning disability; primary amenorrhea; moderate intellectual disability; height 146 cm (−2.66 SD) 1 1 Johan den Dunnen
00464684 Fam7PatII1 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - ? see paper; ..., bilateral sensorineural hearing loss, mild learning disability, no retinal dysfunction; moderate intellectual disability; episodes of lactic acidosi; height 169 cm (0.67 SD) 1 1 Johan den Dunnen
00464685 Fam8PatII1 PubMed: Thomas 2025 2-generation family, 1 affected (deceased), unaffected heterozygous carrier parents F no Australia - - - - - ? see paper; ..., primary ovarian insufficiency, no bilateral sensorineural hearing loss, no microcephaly; intellectual disability, epilepsy, retinitis pigmentosa, bilateral posterior subcapsular cataracts, obesity, hypothyroidism, menstrual cycle anomalies, psychosis with neurocognitive decline; refractory seizures; mood disturbance, hallucinations; dysphagia with aspiration pneumonia 2 1 Johan den Dunnen
00464686 Fam9PatII1 PubMed: Thomas 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - ? see paper; ..., profound bilateral sensorineural hearing loss, microcephaly, mild learning disability; developmental delay, ataxia 1 2 Johan den Dunnen
00464687 Fam9PatII2 PubMed: Thomas 2025 brother M yes Saudi Arabia - - - - - ? see paper; ..., profound bilateral sensorineural hearing loss, microcephaly, mild learning disability; developmental delay, ataxia; 18m-sit, never crawled/walked; 6y-cognitive delay; speech 2 words; recurrent episodes of hypoglycemia 1 1 Johan den Dunnen
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