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MAMDC4

Synonyms
AEGP, EDTB
External resources

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
104
Likely pathogenic
113
VUS
8,522
Likely benign
1,417
Benign
0

Patient phenotypes

Proportions of phenotypes among 216 patients carring pathogenic or likely pathogenic variants on MAMDC4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the eye
25.5%
Abnormality of the musculoskeletal system
23.6%
Abnormality of head or neck
16.7%
Abnormality of the cardiovascular system
14.8%
Abnormality of the integument
10.6%
Growth abnormality
9.3%
Abnormality of the ear
8.3%
Abnormality of the digestive system
6.9%
Abnormality of the genitourinary system
6.9%
Abnormality of the immune system
6.5%
Abnormality of limbs
5.6%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the endocrine system
3.2%
Abnormality of the respiratory system
3.2%
Neoplasm
3.2%
Abnormality of prenatal development or birth
2.8%
Abnormal cellular phenotype
1.4%
Constitutional symptom
1.4%
Abnormality of the breast
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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