NORD^® Rare Disease Database

bronchiectasis with or without elevated sweat chloride 2

Also known as: BESC2, SCNN1A bronchiectasis, bronchiectasis caused by mutation in SCNN1A, bronchiectasis with or without elevated sweat chloride 2, bronchiectasis with or without elevated sweat chloride type 2, cystic fibrosis-like syndrome

bronchiectasis with or without elevated sweat chloride 3

Also known as: BESC3, SCNN1G bronchiectasis, bronchiectasis caused by mutation in SCNN1G, bronchiectasis with or without elevated sweat chloride 3, bronchiectasis with or without elevated sweat chloride type 3, cystic fibrosis-like syndrome

idiopathic bronchiectasis

bronchiectasis with or without elevated sweat chloride 1

Also known as: BESC1, bronchiectasis with or without elevated sweat chloride 1, bronchiectasis with or without elevated sweat chloride 1, modifier of, bronchiectasis with or without elevated sweat chloride type 1, cystic fibrosis-like syndrome

primary ciliary dyskinesia 1

Also known as: CILD1, DNAI1 primary ciliary dyskinesia, Kartagener syndrome, PCD, Polynesian bronchiectasis, Siewert syndrome, ciliary dyskinesia, primary, 1, ciliary dyskinesia, primary, 1, with or without situs inversus, ciliary dyskinesia, primary, type 1, dextrocardia, bronchiectasis, and sinusitis, immotile cilia syndrome, primary ciliary dyskinesia 1, primary ciliary dyskinesia 1 with or without situs inversus, primary ciliary dyskinesia caused by mutation in DNAI1, primary ciliary dyskinesia type 1

RIN2 syndrome

Also known as: MACS syndrome, RIN2 deficiency, RIN2 syndrome, macrocephaly, alopecia, cutis laxa, and scoliosis, macrocephaly-alopecia-cutis laxa-scoliosis syndrome, tall forehead, sparse hair, skin hyperextensibility, and scoliosis, tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome

combined immunodeficiency due to MALT1 deficiency

Also known as: IMD12, combined immunodeficiency due to MALT1 deficiency, immunodeficiency 12, immunodeficiency type 12

progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Also known as: SCBMS, seizures, cortical blindness, and microcephaly syndrome, seizures, cortical blindness, microcephaly syndrome

familial nasal acilia

hyper-IgE recurrent infection syndrome 4A, autosomal dominant