All individuals with variants in gene C12orf66

11 entries on 1 page. Showing entries 1 - 11.
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00460356 FamAPatII1 PubMed: Buchert 2025 2-generation family, 1 affected, unaffected heterozygous carrier 1st cousin parents M yes - - - - - - NDD see paper; ..., birth weight 3,200g (-1.25), length 51cm (-0.66); height 183cm (+1.77), weight 81kg (+1.75), OFC 63cm (+5.4); 1y5-walk; normal speech; normal comprehension; no regression; mild Intellectual disability; 6m-seizures (cyanotic autonomic focal seizures and rare tonic-clonic); MRI normal; hypotonia; no hypertonia; no movement disorder; no stereotypies; no behavioral anomalies; normal sleep; hypertelorism; normal hearing; normal vision; cannot run; sialorrhea; fast fatiguability 1 1 Johan den Dunnen
00460357 FamBPatII2 PubMed: Buchert 2025 2-generation family, 2 affected, unaffected heterozygous carrier 1st cousin parents M yes - - - - - - NDD see paper; ..., birth weight 1,400g (-4.69); height 168cm (-0.44), OFC 54cm (-0.74); 2y-walk; speech delay; delayed comprehension; no regression; moderate Intellectual disability; seizures; normal sleep; short, deep philtrum; mild bilateral hearing impairment; normal vision; hemophilia type VIII; simple incomplete syndactyly 1 2 Johan den Dunnen
00460358 FamBPatII4 PubMed: Buchert 2025 brother M yes - - - - - - NDD see paper; ..., birth weight 2,500g (-2.38); height 128cm (-1.64), OFC 54cm (+0.84); 2y-walk; no speech; very limited comprehension; no regression; severe Intellectual disability; seizures; normal sleep; short, deep philtrum; normal hearing; normal vision; 2y6m-aortic stenosis 1 1 Johan den Dunnen
00460359 FamCPatII1 PubMed: Buchert 2025 2-generation family, 2 affected, unaffected heterozygous carrier 1st cousin parents F yes Turkey Kurdistan - - - - NDD see paper; ..., birth weight 1,320g (P44; -0.15), length 41cm (+0.38), OFC 28cm (0); 13y-height 147cm (-1.94), weight 31.8kg (-2.77), OFC 55cm (+0.68); walking with assistance at the age of 16 y; no speech; severe Intellectual disability; 6m-seizures; MRI unspecific gliosis in right frontal semioval center; hand washing movements; repetitive head circling, fingernail biting; laughing fits; difficulty sleeping through night; discrete synophrys, short, broad nose with broad nasal bridge, low-hanging columella, short, deep philtrum, high and narrow palate; strabismus convergens; hypopigmented maculae covering entire integument; Langerhans cell histiocytosis as newborn; episodes of near-daily vomiting 1 2 Johan den Dunnen
00460360 FamCPatII3 PubMed: Buchert 2025 brother M yes Turkey Kurdistan - - - - NDD see paper; ..., birth weight normal, length normal; 1y11m-walk; speech babbling; Intellectual disability; no; difficulties to fall asleep; broad nose with broad nasal bridge, rather deep philtrum, low-hanging columella; perinatal asphyxia 1 1 Johan den Dunnen
00460361 FamDPatII3 PubMed: Buchert 2025 2-generation family, 1 affected, unaffected heterozygous carrier 1st cousin parents M yes Pakistan - - - - - NDD see paper; ..., birth weight 2,600g (-2.23); weight 35kg (+2.42); 3y-walk; speech 8-10 words; regression; moderate Intellectual disability; yes (focal mainly, sometimes bilateral tonic clonic and rarely myoclonic jerks); MRI few T2W hyperintensities in the periventricular white matter predominantly in the parieto-occipital regions; hypotonia; no hypertonia; movement disorder; autism, attention-deficient hyperactive disorder, aggression; normal hearing; normal vision 1 1 Johan den Dunnen
00460362 FamEPatII1 PubMed: Buchert 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - NDD see paper; ..., birth weight 2,236g (-2.39); height 97cm (-0.89), weight 13.8kg (-1.71), OFC 52cm (+1.56); 2y-walk; speech delay; delayed comprehension; no regression; moderate Intellectual disability; febrile; MRI non-specific white matter gliosis in the parietal and frontal regions; hypotonia; no hypertonia; no movement disorder; normal hearing; normal vision 2 1 Johan den Dunnen
00460363 FamFPatII1 PubMed: Buchert 2025 2-generation family, 1 affected, unaffected heterozygous carrier cousin parents M yes - - - - - - NDD see paper; ..., relative macrocephaly; verbal dyspraxia; Intellectual disability; seizures (tonic posturing, myoclonic jerks); no hypotonia; no hypertonia; no movement disorder; self-destructive behaviors; normal hearing; normal vision 1 1 Johan den Dunnen
00460364 FamGPatII2 PubMed: Buchert 2025 family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - NDD see paper; ..., intellectual disability; no seizures; dystonia; conductive hearing impairment 1 2 Johan den Dunnen
00460365 FamGPatII3 PubMed: Buchert 2025 brother M - - - - - - - NDD see paper; ..., intellectual disability; no seizures; dystonia; conductive hearing impairment 1 1 Johan den Dunnen
00460366 FamHPatII1 PubMed: Buchert 2025 2-generation family, 1 affected, unaffected heterozygous carrier cousin parents F yes - - - - - - NDD see paper; ..., birth weight 2,390g (-2.34), length 45cm (-2.62), OFC 32cm (-2.50); height 144cm (-1.61), weight 37kg (-1.04), OFC 55.3cm (+1.24); 18m-walk; speech simple combination of words; very limited comprehension; no regression; moderate Intellectual disability; 6y-seizures (generalized tonic-clonic); MRI normal; hypotonia; no hypertonia; no movement disorder; stereotypies; attention-deficient hyperactive disorder; impaired sleep; short nose with anteverted nares, prominent forehead with depressed nasal bridge; normal hearing; hyperopia; clinodactyly 5th fingers bilaterally 1 1 Johan den Dunnen
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