MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.900 |
strong |
1.000 |
5 |
6
|
2007 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.460 |
strong |
1.000 |
6 |
|
2017 |
2020 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.310 |
strong |
1.000 |
2 |
|
2018 |
2019 |
Lujan Fryns syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
7
|
3
|
0.300 |
None |
1.000 |
2 |
|
2007 |
2013 |
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
|
disease |
|
Disease or Syndrome
|
14
|
|
0.200 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
5 |
1
|
2007 |
2015 |
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Joint hyperflexibility
|
phenotype |
|
Finding
|
181
|
12
|
0.100 |
None |
|
0 |
|
|
|
Joint contracture of the 5th finger
|
disease |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate tall stature
|
phenotype |
|
Finding
|
30
|
17
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Macroorchidism
|
disease |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.100 |
None |
|
0 |
|
|
|