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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
Bardet-Biedl syndrome Autosomal recessive (1) Medical history collection 2013 [20-24]
(2) Physical examination
(3) Biochemical findings
(4) Organ function tests
(5) Genital examination
(6) Hormone analysis
(7) X-ray
(8) EKG or ECG
Catecholaminergic Autosomal recessive (1) Medical history collection 2021 [25]
polymorphic ventricular (2) Genetic testing
tachycardia type 3
Cutis laxa syndrome Heterogeneous (1) Medical history collection 2010 [26,27]
(2) Physical examination
(3) Skin biopsy
(4) Chest X-ray and echocardiogram
Color blindness X-linked recessive (1) Medical history collection 2009 [28,29]
(2) Ishihara’s test
Cerebral creatine deficiency Autosomal recessive or (1) Medical history collection 2021 [30]
syndrome X-linked (2) MRI of the brain
(3) EEG
(4) Genetic testing
Crouzon Syndrome Autosomal dominant (1) Medical history collection 2020 [31]
(2) Physical examination
(3) X-ray examination
(4) MRI of the brain
(5) CT scan of brain and skull
Congenital hypotrichosis Heterogeneous (1) Medical history collection 2018 [32]
simplex (2) Physical examination
(3) Scalp biopsy
Cockayne syndrome Autosomal recessive (1) Medical history collection 2010 [33,34]
(2) Physical examination
(3) CT scan of the brain
(4) EEG
(5) Biochemical tests
(6) X-ray
(7) Genetic testing
Crohn’s disease Single-gene mutation Not mentioned 2010 [35]
Christmas disease X-linked recessive (1) Medical history collection 2009 [36]
(2) Physical examination
(3) Nervous system examination
(4) Coagulation factor test
(5) Erythrocyte sedimentation rate
(6) Hemoglobin test
(7) Platelet count blood test
(Contd...)

Volume 1 Issue 1 (2022) 3 https://doi.org/10.36922/gpd.v1i1.78