Mental Retardation, X-Linked, Syndromic, Christianson Type
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
6
|
13
|
0.800 |
definitive |
1.000 |
19 |
13
|
2008 |
2020 |
Mental retardation X-linked, South African type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
4 |
|
2008 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.440 |
strong |
1.000 |
4 |
|
2011 |
2020 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.120 |
None |
1.000 |
2 |
2
|
2011 |
2014 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.120 |
None |
1.000 |
2 |
2
|
2011 |
2014 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
MRSA - Methicillin resistant Staphylococcus aureus infection
|
disease |
Infections
|
Disease or Syndrome
|
222
|
1
|
0.100 |
None |
0.971 |
104 |
|
2000 |
2020 |
Soft Tissue Infection
|
group |
Infections
|
Disease or Syndrome
|
38
|
|
0.100 |
None |
1.000 |
48 |
|
2004 |
2020 |
Bacteremia
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
233
|
7
|
0.100 |
None |
0.926 |
27 |
|
2008 |
2020 |
Skin Diseases, Infectious
|
group |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
74
|
|
0.100 |
None |
1.000 |
14 |
|
2004 |
2019 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.100 |
None |
1.000 |
11 |
|
2009 |
2020 |
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.100 |
None |
1.000 |
10 |
|
2009 |
2019 |
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.100 |
None |
1.000 |
10 |
|
2008 |
2019 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Sleep disturbances
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
311
|
74
|
0.100 |
None |
|
0 |
1
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Long nose
|
phenotype |
|
Finding
|
29
|
2
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Photosensitive tonic-clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Loss of ability to walk in first decade
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|