All individuals with variants in gene TUBGCP2

7 entries on 1 page. Showing entries 1 - 7.
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00050476 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth 1 2 Johan den Dunnen
00266386 Fam1PatVI5 PubMed: Milani 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes United States - - - - - ? born at term; OFC birth 32.5 (SD-1.8); OFC 44.5 (SD-5.0); narrow forehead, upslanting palpebral fissures, thick eyebrows, bulbous nose, prominent ear, smooth philtrum, thin upper lip, widened and separated teeth; truncal hypotonia; no spasticity; myopia; normal auditory; delayed motor skills; delayed language; autistic features; 6y9m-onset generalized seizures; 6y6m-EEG continuous slow background activity and frequent multifocal epileptiform discharges; 21m-MRI brain pachygyria, thin corpus callosum, mild cerebellar volume loss 1 2 Johan den Dunnen
00266387 Fam1PatV1 PubMed: Milani 2019 - M yes United States - - - - - ? born at term; OFC birth (SD-2.1); OFC 44 (SD-5.5); narrow forehead, bulbous nose, prominent ear, smooth philtrum, retrognathia; no truncal hypotonia; no spasticity; normal motor skills; difficulty in reading; no autistic features; no seizures; 6m-MRI brain pachygyria 1 1 Johan den Dunnen
00266388 Fam2PattII3 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F - United States - - - - - ? born 31w; OFC birth 25 (SD-2.0); short and sloped forehead, thick eyebrows, puffy eyelids, full lips, retromicrognathia; truncal hypotonia; brisk reflexes; spasticity; cortical blindness; normal auditory; severely delayed motor skills; severely delayed language; no autistic features; 5m-onset generalized seizures; abnormal EEG; 5m-MRI brain pachygyria, subcortical band, subependymal heterotopia, multiple subependymal cysts, delayed myelination, thincorpus callosum and brainstem 1 1 Johan den Dunnen
00266389 Fam3PatII2 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F yes - - - - - - ? born 27w; OFC birth 21 (SD-2.3); OFC 34 (SD-9.0); bitemporal narrowing, upslanting palpebral fissure, synophrys, micrognathia, midfacial hypoplasia, prominent lower lip, prominent ears; truncal hypotonia; no spasticity; optic atrophy, retinal changes; passed auditory brainstem response test; severely delayed motor skills; severely delayed language; no autistic features; 7m-onset generalized seizures; EEG frequent epileptiform discharges; 1y-MRI brain pachygyria, subcortical band, subependymal cysts, periventricular leukomalacia, thin corpus callosum, thin brainstem 1 1 Johan den Dunnen
00266390 Fam4PatII1 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents/relative F - - - - - - - ? born at term; OFC birth 35 (SD+0.4); OFC 46 (SD-4.0); smooth philtrum, prominent ears; no truncal hypotonia; normal reflexes; no spasticity; myopia, astigmatism; normal auditory; delayed motor skills; delayed language; no autistic features; generalized seizures; EEG paroxysmal epileptiform activity localized to central area; 8y-MRI brain pachygyria, delayed myelination, thin corpus callosum 2 1 Johan den Dunnen
00326002 FamAPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F no Turkey - >16y - - - CORD reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function 2 3 Jens Doets
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