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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
Huntington’s disease Autosomal dominant (1) Medical history collection 2016 [60-62]
(2) Analysis of blood parameters
(3) MRI
(4) Neurological examination
(5) Genetic testing
Hemophilia X-linked recessive (1) Medical history collection 2006 [36,63,64]
(2) Physical examination
(3) Coagulation screening test
(4) X-ray
(5) Biochemical tests
Hajdu-Cheney syndrome Autosomal dominant (1) Medical history collection 2012 [65]
(2) Physical examination
(3) X-ray
Hutchinson-Gilford progeria Autosomal dominant (1) Medical history collection 2017 [66]
syndrome (2) Biochemical test
(3) Radiographic findings
Hereditary spastic paraplegia Autosomal dominant/ (1) Medical history collection 2013 [67]
recessive/X-linked (2) Physical examination
(3) MRI
(4) CT scan
Inborn errors of metabolism Autosomal dominant/ (1) Medical history collection 2018 [68]
recessive/X-linked (2) Screening of amino acid, organic
acid, and fatty acid metabolism
disorders by tandem mass spectrometry
Kartagener’s syndrome Autosomal recessive (1) Medical history collection 2015 [69,70]
(2) Physical examination
(3) X-ray
(4) Electrocardiogram
(5) High-resolution computed
tomography
Keratosis follicularis X-linked recessive (1) Medical history collection 2017 [71]
spinulosa decalvans (2) Physical examination
(3) Scalp biopsy
Klinefelter syndrome Chromosomal disorder (1) Karyotype test 2018 [72]
Larsen syndrome Autosomal dominant/ (1) Medical history collection 2015 [73]
recessive (2) Physical examination
(3) Hematology test
(4) Radiological Survey
Lysosomal storage disorders Autosomal recessive/X-linked (1) Clinical evaluation 2019 [74]
(2) Analysis of urinary metabolites
(3) Bone marrow study
(4) Liver biopsy
Marfan syndrome Autosomal dominant (1) Medical history collection 2012 [75-77]
(2) Physical examination
(3) Echocardiography
(4) USG
(5) Analysis of complete blood count,
urine, serum creatinine, and random
blood sugar, as well as anti-streptolysin
O test
(6) Chest radiography
(Contd...)

Volume 1 Issue 1 (2022) 6 https://doi.org/10.36922/gpd.v1i1.78