All individuals with variants in gene FIBCD1

2 entries on 1 page. Showing entries 1 - 2.
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00415949 Pat1 PubMed: Fell 2022, Journal: Fell 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M no - white - - - - NDD see paper; ..., severe autism spectrum disorder, borderline delayed cognition, anxiety, attention-deficit/hyperactivity disorder combined type; normal sit, normal walk; no speech, no epilepsy; high pain tolerance, sensitive touch; fine motor coordination deficits; triangular shaped head, hypertelorism, almond-shaped eyes, posteriorly rotated ears, low set ears, epicanthal folds; allergic rhinitis, sinusitis 2 1 Johan den Dunnen
00415950 Pat2 PubMed: Fell 2022, Journal: Fell 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - NDD see paper; ..., severe neurodevelopmental dealy, delayed social/cognitive abilities; delayed sit, delayed walk; no speech; no epilepsy; MRI slightly thickened cortex, decreased white matter volume, ventriculomegaly, bilateral enlarged frontal gyri; microcephaly, micrognathia, low set ears; patent ductus arteriosus, resolved at 6m; recurrent pneumonia; no immunological anomalies 2 1 Johan den Dunnen
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