All individuals with variants in gene RAB1A

13 entries on 1 page. Showing entries 1 - 13.
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00441747 Fam1PatII1 PubMed: Rios 2023 2-generation family, affected twins (brither/sister/father) M - United States - - - - - ? see paper; ..., motor delay; learning disability; MRI normal; no microcephaly; vision impairment; spastic paraplegia 1 2 Johan den Dunnen
00441748 Fam1PatII2 PubMed: Rios 2023 sister F - United States - - - - - ? see paper; ..., motor delay; sensory integration disorder, dyslexia; MRI normal; no microcephaly; vision impairment; bilateral foot cavus, scoliosis; spastic paraplegia 1 1 Johan den Dunnen
00441749 Fam2PatII1 PubMed: Rios 2023 2-generation family, affected father/daugther F - United States - - - - - ? see paper; ..., speech delay; motor delay; autism, seizures, intellectual disability, anxiety; MRI normal; no microcephaly; dysmorphism; light sensitivity; abnormal involuntary movements; hemangioma, constipation, severe insomnia 1 2 Johan den Dunnen
00441750 Fam3PatII1 PubMed: Rios 2023 2-generation family, 1 affected, unaffected parents M - United States - - - - - ? see paper; ..., autism, anxiety, aggression; no microcephaly; dysmorphism, bifid uvula; hyperextensibility, fatigue, joint pain; tremor, muscle weakness, nephrotic syndrome 1 1 Johan den Dunnen
00441751 Fam4PatII2 PubMed: Rios 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., speech delay; motor delay; abnormal EEG without seizure, cognitive delay, ADHD, anxiety; MRI foreshortened corpus callosum, mildly prominent ventricular system, widening foramen of Magendie; microcephaly; dysmorphism; spondyloepimetaphyseal dysplasia, scoliosis and spinal fusion, short stature; chronic constipation, periodic limb movement disorder 1 1 Johan den Dunnen
00441752 Pat1;Pat6 PubMed: Wohlleber 2011, PubMed: Rios 2023 - M - - - - - - - ? see paper; ..., speech delay; motor delay; seizures, intellectual disability; MRI normal; microcephaly; dysmorphism; hyperopia 1 1 Johan den Dunnen
00441753 Pat2;Pat7 PubMed: Wohlleber 2011, PubMed: Rios 2023 - F - - - - - - - ? see paper; ..., speech delay; motor delay; mild intellectual disability; MRI normal; microcephaly; dysmorphism; normal vision 1 1 Johan den Dunnen
00441754 Pat2;Pat8 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - ? see paper; ..., speech delay; motor delay; dysmorphism; vision impairment; hypotonia 1 1 Johan den Dunnen
00441755 Pat4;Pat9 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - ? see paper; ..., speech delay; motor delay; MRI cerebral atrophy, colpocephaly, enlarged cisterna magna; microcephaly; dysmorphism; hypotonia; failure to thrive 1 1 Johan den Dunnen
00441756 Pat5;Pat10 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - ? see paper; ..., motor delay; short attention span, aggression; microcephaly; dysmorphism; osteopenia, scoliosis, pes planus, ankle eversion; failure to thrive 1 1 Johan den Dunnen
00441757 Pat7;Pat11 PubMed: Jorgez 2014, PubMed: Rios 2023 - M - United States - - - - - ? see paper; ..., speech delay; motor delay; hyperactivity; dysmorphism; esotropia; mild camptodactyly, pes planus 1 1 Johan den Dunnen
00441758 patient;Pat12 PubMed: Hancarova 2013, PubMed: Rios 2023 - M - Czech Republic - - - - - ? see paper; ..., speech delay; motor delay; hyperactivity, intellectual disability; MRI hemosiderin deposition, changes in lateral ventricles; microcephaly; dysmorphism; myopia; delayed tooth eruption; diagnosed spastic cerebral ataxia 1 1 Johan den Dunnen
00441759 Pat13 PubMed: Rios 2023 controls and cases - - United States - - - - - Healthy/Control - 1 1 Johan den Dunnen
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