X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
|
0 |
1
|
|
|
Unexplained fevers
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Recurrent pharyngitis
|
phenotype |
Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatic Encephalopathy
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
3
|
0.100 |
None |
|
0 |
|
|
|
Fulminant hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
57
|
1
|
0.100 |
None |
|
0 |
|
|
|
Encephalitis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
324
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
Facial edema
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
9
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
1
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Reduced natural killer cell activity
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Meningitis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
191
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebral dysmyelination
|
phenotype |
|
Finding
|
17
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.100 |
None |
|
0 |
1
|
|
|
Pregnancy in Diabetics
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
53
|
1
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Gestational Diabetes
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
649
|
224
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Hyaline Membrane Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Epstein-Barr Virus Infections
|
group |
Infections
|
Disease or Syndrome
|
384
|
72
|
0.100 |
None |
1.000 |
32 |
|
1991 |
2020 |
Leukemia, T-Cell
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
457
|
10
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2013 |