All individuals with variants in gene BLOC1S1

11 entries on 1 page. Showing entries 1 - 11.
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00475197 FamIPat1 PubMed: De Pace 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Europe-N - - - - ? see paper; ..., birth uncomplicated; failure to thrive; 1y-feeding difficulties; 6m-developmental delay; 1y-regression; profound intellectual disability; motor function head control, floor mobility; fine motor function batting/reaching; communication vocalization; 1y-single words; 22m-seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; no peripheral neuropathy; no bone dysplasia; hip dislocation; scoliosis; no autonomic issues; no irritability; no skin abnormalities; hypopigmentation (fairer than family); no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; swallowing difficulties; feeding tube; liver dysfunction increased transaminases; no inflammatory bowel disease; anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; no nystagmus; strabismus; no retinal anomalies; optic atrophy; dysmorphic facial features; teeth excessive cavities; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth 2 1 Johan den Dunnen
00475198 FamIIPat1 PubMed: De Pace 2026 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes - Middle-East - - - - ? see paper; ..., birth uncomplicated; failure to thrive; no regression; severe intellectual disability; motor function head control, floor mobility; fine motor function batting/reaching; communication vocalization; seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; no bone dysplasia; hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; gastroesophageal reflux disease; swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no respiratory failure; cortical visual impairment; nystagmus; strabismus; no retinal anomalies; optic atrophy; no dysmorphic facial features; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth 1 2 Johan den Dunnen
00475199 FamIIPat2 PubMed: De Pace 2026 sister F yes - Middle-East - - - - ? see paper; ..., birth uncomplicated; no failure to thrive; 1y-developmental delay; no regression; moderate intellectual disability; motor function independent walking; fine motor function pincer grasp; communication single words; 4y-seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; gait/truncal ataxia; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; irritability; acanthosis nigricans; no hypopigmentation; no ocular albinism; no unexplained rashes; gastroesophageal reflux disease; no swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no respiratory failure; no pulmonary fibrosis; no cortical visual impairment; nystagmus; strabismus; no retinal anomalies; optic atrophy; no dysmorphic facial features; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth 1 1 Johan den Dunnen
00475200 FamIIIPat1 PubMed: De Pace 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Europe-S - - - - ? see paper; ..., birth uncomplicated; failure to thrive; 1m-feeding difficulties; no regression; profound intellectual disability; motor function head control, floor mobility, independent sitting; no fine motor function; no communication; 2y-seizures; spasticity; no axial hypotonia; dystonia hands/feet; opisthotonos; spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; dyskinetic movements; stable movement disorder; no peripheral neuropathy; no bone dysplasia; hip dislocation; scoliosis; no autonomic issues; irritability; no skin abnormalities; no hypopigmentation; mild ocular albinism; no unexplained rashes; gastroesophageal reflux disease; swallowing difficulties; feeding tube; liver dysfunction increased transaminases; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; nystagmus; strabismus; albinotic optic disc, arteriolar narrowing; optic atrophy; dysmorphic facial features; teeth enamel hypoplasia, excessive cavities, gingivitis; no hearing impairment; pneumonia; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth 1 1 Johan den Dunnen
00475201 FamIVPat1 PubMed: De Pace 2026 2-generation family, 3 affected (deceased 2 brothers/sister,) unaffected heterozygous carrier parents F yes - Asia-W 5m - - - ? see paper; ..., 5m-deceased; birth respiratory distress, pneumonia; failure to thrive; 1d-feeding difficulties; regression; no motor function; no fine motor function; no communication; no seizures; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; no peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; swallowing difficulties; feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; respiratory failure; no cortical visual impairment; no nystagmus; no strabismus; no dental complications; no hearing impairment; kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth 1 3 Johan den Dunnen
00475202 FamVPat1 PubMed: De Pace 2026 2-generation family, 2 affected sister/brother, unaffected heterozygous carrier parents F yes - Middle-East - - - - ? see paper; ..., birth uncomplicated; failure to thrive; 7m-feeding difficulties; 11m-developmental delay; no regression; severe intellectual disability; motor function independent walking; 1y-sit, 36m-walk; fine motor function pincer grasp; communication single words; 6y-single words; 1y-seizures; spasticity; no axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; myoclonus; no limb contractures; Parkinsonism; no chorea; no tremor; dyskinetic movements; gradual improvement movement disorder; no gait/truncal ataxia; no peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; dysphagia (eating quickly); no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; no cortical visual impairment; no nystagmus; strabismus; no retinal anomalies; no optic atrophy; dysmorphic facial features; no dental complications; no hearing impairment; infant recurrent respiratory infections; no kidney disease; no endocrine disorders; long fingers, normal hair, normal nails, normal teeth 1 2 Johan den Dunnen
00475203 FamVPat2 PubMed: De Pace 2026 brother M yes - Middle-East - - - - ? see paper; ..., birth uncomplicated; failure to thrive; 9m-feeding difficulties; 10m-developmental delay; no regression; severe intellectual disability; motor function independent walking; 14m-sit, 36m-walk; fine motor function pincer grasp; communication single words; 5y-single words; no seizures; spasticity; no axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; no limb contractures; Parkinsonism; no chorea; no tremor; dyskinetic movements; gradual improvement movement disorder; no gait/truncal ataxia; no peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; mild ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; no swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; no cortical visual impairment; no nystagmus; no strabismus; albinotic optic disc, depigmented fundus; optic atrophy; dysmorphic facial features; no dental complications; no hearing impairment; infant recurrent respiratory infections; no kidney disease; no endocrine disorders; long fingers, normal hair, normal nails, normal teeth 1 1 Johan den Dunnen
00475204 FamVIPat1 PubMed: De Pace 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Middle-East - - - - ? see paper; ..., birth uncomplicated; no failure to thrive; profound intellectual disability; no motor function; fine motor function reaching/grasp; no communication; no seizures; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; stable movement disorder; peripheral neuropathy; no bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; no hypopigmentation; no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; no swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; no nystagmus; no strabismus; no retinal anomalies; optic atrophy; no dysmorphic facial features; bilateral moderate hearing loss; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth 1 1 Johan den Dunnen
00475205 FamVIIPat1 PubMed: De Pace 2026 2-generation family, 3 affected (sister/twin fetuses), unaffected heterozygous carrier parents F yes - Asia-W 1d - - - ? see paper; ..., 1d-deceased; birth respiratory distress, intubation, cardiac arrest; failure to thrive; 1d-feeding difficulties; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; known bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; hypopigmentation; no ocular albinism; no unexplained rashes; swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; cardiovascular issues; respiratory failure; no pulmonary fibrosis; ?; no nystagmus; no strabismus; no retinal anomalies; no optic atrophy; dysmorphic facial features; no kidney disease; endocrine disorders 1 3 Johan den Dunnen
00475206 FamVIIPat2a PubMed: De Pace 2026 fetus - yes - Asia-W <0d - - - ? see paper; ..., terminated pregnancy 1 1 Johan den Dunnen
00475207 FamVIIPat2b PubMed: De Pace 2026 fetus - yes - Asia-W <0d - - - ? see paper; ..., terminated pregnancy 1 1 Johan den Dunnen
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