All individuals with variants in gene TM2D3

6 entries on 1 page. Showing entries 1 - 6.
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00231412 Fam4527 PubMed: Cox 2019 4-generation family, 6 affected (3F, 3M) F;M - United States - - - - - CLP vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655) 1 6 Timothy Cox
00318040 PKMR325 PubMed: Riazuddin 2017 - - yes Pakistan Punjabi - - - - ID IV:1 Mild ID, aggressive, dental carries; IV:2 severe ID, spasticity, aggressive, speech and walking delay CMS. 1 1 Johan den Dunnen
00466014 Fam1PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - NDD see paper; ..., intrauterine growth retardation; birth-38w, 1,870g, 46cm, 32cm; height -3 SD, weight -2.5 SD, OFC -5 SD; severe developmental delay; not walking; speech vocalization; hypertonia, dystonia; anxiety, agitation, relational disorder; no seizures; MRI brain 18m/36ym-global hypotrophy with small frontal lobes; mild pyelocaliceal dilatation; patent ductus arteriosus, patent foramen ovale; hypermetropia; scrotal hypoplasia 2 1 Johan den Dunnen
00466015 Fam2PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - NDD see paper; ..., intrauterine growth retardation, kidney malformation, polyvalvular dysplasia; birth-35w, 1,780g, 41cm, 30cm; height -3.3 SD, weight -2.5 SD, OFC -3.6 SD; severe developmental delay; 4y-walk with support; speech vocalization; hypertonia, dystonia; anxiety, autistic features; 1y6m-seizures; MRI brain 5y-small frontal lobes, abnormal gyration, thick corpus callosum; horseshoe kidney; polyvalvular dysplasia, ventricular septal defect; hypermetropia, strabismus; scrotal hypoplasia, cryptorchidism 2 1 Johan den Dunnen
00466016 Fam3PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - NDD see paper; ..., polyhydramnios, fetal kidney malformation; birth-36w, 2,720g; height +1.3 SD, weight -0.5 SD, OFC -2.5 SD; severe developmental delay; 3y-walk with support; speech vocalization, bi-syllabic words; hemiplegic episodes; agitation; 2m-seizures, alternating hemiplegia; MRI brain 1y/5y-abnormal frontal folding, vermis hypoplasia; horseshoe kidney; three ventricular septal defects, vena cava duplication; no ophthalmologic features; no reproductive organ anomaly 1 1 Johan den Dunnen
00466017 Fam4PatII1 PubMed: Gabillard-Lefort 2025, Journal: Gabillard-Lefort 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - NDD see paper; ..., decreased fetal activity; birth-36w, 25th p, 50th p, 10th p; height +0.3 SD, weight -1.8 SD, OFC -4 SD; severe developmental delay; 2y-walk, wide-based gait; speech vocalization; hypertonia; anxiety, agitation, autistic features; no seizures; CT scan brain 3y-pineal cyst; abdominal ultrasound normal; ventricular septal defect; strabismus, legal blindness; no reproductive organ anomaly 2 1 Johan den Dunnen
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