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Gene & Protein in Disease Bangladesh genetic disease database

Table 1. (Continued).
Genetic diseases Inheritance mode Diagnosis procedure Publishing year of Reference
the first case report
Cystic fibrosis Single-gene mutation (1) Answering a questionnaire 2004 [37,38]
(2) Medical history collection
(3) X-ray
(4) Biochemical test
(5) Mantoux test
(6) ECG
(7) Echocardiography
(8) Primary Immunodeficiency panel
(9) Saccharine test
(10) FOB
(11) Stool microscopy
(12) Sweat chloride test
(13) Mutation analysis
Down syndrome Chromosomal disorder (1) Physical examination 2016 [39,40]
(2) Biochemical test
(3) USG
(4) Karyotype test
Darier’s disease/keratosis Autosomal dominant (1) Medical history collection 2020 [41]
follicularis (2) Biochemical test
(3) Histological examination
(4) Biopsy
Duchenne muscular X-linked recessive (1) Medical history collection 2009 [42]
dystrophy (2) Physical examination
Epidermodysplasia Autosomal recessive (1) Medical history collection 2011 [43]
verruciformis (2) Physical examination
(3) Biopsy
(4) X-ray
Edward syndrome Chromosomal disorder (1) Medical history collection 2012 [44,45]
(2) Transabdominal ultrasound
(3) Physical examination
(4) Chromosome analysis
Escobar syndrome Autosomal recessive (1) Medical history collection 2015 [46]
(2) Physical examination
(3) Evaluation by various specialized
doctors
(4) Spine radiography
Ellis-van Creveld syndrome Autosomal recessive (1) Medical history collection 2016 [47]
(2) Biochemical test
(3) X-ray
Fraser syndrome Autosomal recessive (1) Medical history collection 2014 [48,49]
(2) Physical examination
(3) X-ray
(4) USG
(5) Blood tests
(6) Biopsy
(7) Karyotype test
(Contd...)

Volume 1 Issue 1 (2022) 4 https://doi.org/10.36922/gpd.v1i1.78