All individuals with variants in gene EEFSEC

9 entries on 1 page. Showing entries 1 - 9.
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AscendingIndividual ID     
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Disease     
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00459440 Fam1PatII4 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil - - - - - NDD see paper; ..., club feet, developmental delay; secondary microcephaly; moderate intellectual disability; delayed speech; delayed motor development; progressive spasticity predominantly lower extremities; dysmetric jerks, nystagmus; 19y-tonic-clonic seizures; normal vision; no hearing impairment; club feet; 21y-neuroimaging mild cerebral atrophy (detailed in paper) 1 1 Johan den Dunnen
00459441 Fam2PatII7 PubMed: Laugwitz 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Brazil - - - - - NDD see paper; ..., developmental delay; primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, not walking; progressive spasticity predominantly lower extremities; nystagmus, saccadic breakdown; 10y-complex focal seizures; strabism; no hearing impairment; micrognathia; facial dysmorphism; hypochromic skin lesion; 13y-neuroimaging mild cerebral atrophy (detailed in paper) 1 2 Johan den Dunnen
00459442 Fam2PatII8 PubMed: Laugwitz 2025 sister F yes Brazil - - - - - NDD see paper; ..., developmental delay; primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, not walking; progressive spasticity predominantly lower extremities; no ataxia; peripheral neuropathy; 2y-complex focal seizures; strabism; no hearing impairment; thin upper lip; hypochromic skin lesion; 15y/21y-neuroimaging progressive cerebral atrophy (detailed in paper) 1 1 Johan den Dunnen
00459443 Fam3PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected/3 deceased fetuses, unaffected heterozygous carrier parents F no United States - - - - - NDD see paper; ..., microcephaly, developmental delay; primary microcephaly; moderate intellectual disability; delayed speech; delayed motor development, 14m-walk; progressive spasticity predominantly lower extremities; intention tremor, dysarthria, ataxic gait; 18m-complex focal seizures, repetitive status epilepticus; normal vision; no hearing impairment; bilateral mild 5th finger clinodactyly; slight 2-3 syndactyly toes; 7y-neuroimaging mild cerebral atrophy (detailed in paper) 2 1 Johan den Dunnen
00459444 Fam4PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Georgia jew - - - - NDD see paper; ..., severe muscular hypotonia, respiratory distress; secondary microcephaly; severe intellectual disability; no expressive language; delayed motor development, not walking; progressive spasticity; no ataxia; seizures; severe contractures; club feet; 1m/21m/6y-neuroimaging cerebella hypoplasia, delayed myelination (detailed in paper) 1 1 Johan den Dunnen
00459445 Fam5PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - NDD see paper; ..., intrauterine growth restriction, developmental delay; progressive primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, 22m-walk; no spasticity; no ataxia; no seizures; oculomotor apraxia, horizontal gaze palsy; hearing impairment; syndactyly; nail dysplasia; 3y6m-neuroimaging mild cerebral atrophy (detailed in paper) 1 1 Johan den Dunnen
00459446 Fam6PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., intrauterine growth restriction, developmental delay; secondary microcephaly; moderate intellectual disability; delayed speech; delayed motor development, not walking; no spasticity; no ataxia; no seizures; apraxia, horizontal gaze palsy; hearing impairment; joint laxity; facial dysmorphism; high arched palate; 4m-neuroimaging thin corpus callosum (detailed in paper) 1 1 Johan den Dunnen
00459447 Fam7PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - NDD see paper; ..., dysphagia; secondary microcephaly; severe intellectual disability; delayed speech; delayed motor development, 35m-walk; progressive spasticity predominantly lower extremities; ataxic gait, intention tremor; peripheral neuropathy; 3y-4y-myoclonic seizures; normal vision; no hearing impairment; 10y-neuroimaging cerebral atrophy (detailed in paper) 1 1 Johan den Dunnen
00459448 Fam8PatII3 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Afghanistan - - - - - NDD see paper; ..., severe muscular hypotonia; secondary microcephaly; severe intellectual disability; no expressive language; delayed motor development, not walking; progressive spasticity; no ataxia; 2d-complex focal seizures; optic nerve hypoplasia; no hearing impairment; facial dysmorphism; microphthalmia; dysmorphic ears; nail dysplasia; 2y3m-neuroimagingsevere cerebral atrophy (detailed in paper) 1 1 Johan den Dunnen
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