All individuals with variants in gene CCDC23

12 entries on 1 page. Showing entries 1 - 12.
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00303456 Fam1 PubMed: Iqbal 2019 5-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/relatives F;M yes Syria - - - - - NDD see paper; ... 1 2 Johan den Dunnen
00303457 Fam2 PubMed: Iqbal 2019 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Pakistan - - - - - NDD see paper; ... 1 2 Johan den Dunnen
00303458 FamA Verdura ESHG2020 C15.11 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Spain Basque - - - - ? see paper; ..., spastic paraplegia, peripheral neuropathy, verbal apraxia, intellectual disability, no microcephaly 1 3 Johan den Dunnen
00303459 FamB Verdura ESHG2020 C15.11 2-generation family, 3 affected (3F), unaffected heterozygous carrier parents F - Spain Basque - - - - ? see paper; ..., spastic paraplegia, peripheral neuropathy, verbal apraxia, intellectual disability, no microcephaly 1 3 Johan den Dunnen
00303460 Fam1PatV-6 PubMed: Pagnamenta 2019 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - NDD moderate/severe intellectual disability; speech little expressive language, better receptive language (few single words); quiet behaviour; height 4y4m-106.9 cm(50th), 7y7m-122.1 cm (25th); OFC 5y4m 48.5 cm (0.4th); lower limb spasticity with brisk tendon reflexes; delayed gross motor development, walk-24m; MRI showed irregular ventricular margins and a thin corpus callosum; coarse facial features, prominent forehead, epicanthic folds, broad nasal bridge; tapering fingers, short 5th metacarpals; very short 3rd and 4th toes; mirror movements fingers; thick dry curly hair, low anterior hairline, iron deficiency anaemia, muscular ventricular septal defect, mongolian blue spot, long sighted 1 4 Johan den Dunnen
00303461 Fam1PatV-7 PubMed: Pagnamenta 2019 - F yes Pakistan - - - - - NDD severe intellectual disability; speech little expressive language (few single words); behaviour loses temper, bangs head, cries, screams; height 3y4m 90.7 cm (2nd-9th), 9y10m 131.2 cm (9th-25th); OFC 3y11m 45.2 cm (<0.4th); increased tone in the lower limbs, with pathologically brisk reflexes and extensor plantar responses; delayed gross motor development, walk-24m; MRI showed dysgenic corpus callosum with dysmorphic ventricles; slight prominence of CSF spaces; normal cisterna magna, white matter, deep grey structures and calcification (data not shown); 2y-single episode of status epilepticus, ongoing seizure disorder controlled by AEDs (resolved as teenager); coarse facial features, low anterior hairline; mirror movements fingers; thick dry curly hair, squint, iron deficiency, anaemia 1 1 Johan den Dunnen
00303462 Fam1PatIV-3 PubMed: Pagnamenta 2019 - F yes Pakistan - - - - - NDD moderate/severe intellectual disability; speech few words; normal behaviour; height 141.3 cm aged 45 years (<0.4th); OFC 45y 56.0 cm (50th-75th) ; no spasticity, walks only with the use of a walking frame, but lower limb tone and reflexes are normal; delayed gross motor development, walk-7y; 13y-14y seizures; coarse facial features; short 3rd, 4th and 5th metacarpals, wasting of the intrinsic muscles of hands with clawing of the fingers; bicuspid aortic valve 1 1 Johan den Dunnen
00303463 Fam1PatIV-4 PubMed: Pagnamenta 2019 - M yes Pakistan - - - - - NDD moderate/severe intellectual disability; speech little expressive language (few words - 3 word sentences); normal behaviour; height 39y 158.4 cm (0.4th); OFC 39y 55.5 cm (9th-25th); spastic paraparesis with brisk lower limb reflexes and extensor plantar responses; several operations to release contractures at his hips and ankles; delayed gross motor development, walk-5y; seizures as an infant. seizures when young, resolved as teenager; coarse facial features; short thumbs, marked muscle wasting of the small muscles of hands with clawing of his fingers; mirror movements; hypothyroidism 1 1 Johan den Dunnen
00303464 Fam2PatII-2 PubMed: Pagnamenta 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Kuwait - - - - - NDD intellectual disability; speech few words; normal behaviour; OFC 7y10m 49.7 cm (0.4th); generalized hypertonia predominantly in both lower limbs, easily elicited reflexes, unsteady spastic gait; no gross motor development; MRI brain normal; no facial dysmorphism; mirror movements hand 1 2 Johan den Dunnen
00303465 Fam2PatII-3 PubMed: Pagnamenta 2019 - F yes Kuwait - - - - - NDD intellectual disability; 6y-speech only few word; normal behaviour; height 2y 79 cm (2nd); OFC 2y 44.5 cm (<0.4th); 6y6m 47.5 cm (<0.4th); Yes (generalized hypertonia predominantly in both lower limbs, ankle clonus, easily elicited reflexes, unsteady spastic gait and toe walking); no gross motor development; MRI showed a thin corpus callosum, dilated ventricles with poor volume of white matter (Fig. 1d); no seizures; no facial dysmorphism, just a right preauricular skin tag 1 1 Johan den Dunnen
00303466 Fam3PatII-1 PubMed: Pagnamenta 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - NDD intellectual disability; 21y-speech only 10 words; normal behaviour; unable to stand-flexion deformity at hips and knees; OFC 3y 46 cm (<0.4th); spastic diplegia and non-ambulant; delayed gross motor development, walk on knees; MRI brain normal; coarse facial features; 2-4 toe cutaneous syndactyly 1 2 Johan den Dunnen
00303467 Fam3PatII-2 PubMed: Pagnamenta 2019 - F yes Pakistan - - - - - NDD severe intellectual disability; delayed speech and language development; autistic behaviour; Height 3y6m 96 cm (25th centile); OFC 45 cm (<0.4th); progressive spasticity with delayed gross and fine motor development; delayed gross motor development, walk-14m, needs splints; MRI detected a thin corpus callosum and reduced periventricular white matter bulk with mildly enlarged ventricles (Fig. 1e); hyperpigmentation skin, small café au lait macules 1 1 Johan den Dunnen
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