Chromosome Xp11.23-P11.22 Duplication Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
MENTAL RETARDATION, X-LINKED 78
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormal tracheobronchial morphology
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Corticospinal tract hypoplasia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
EEG with centrotemporal focal spike waves
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aicardi's syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Narrowing
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Inappropriate crying
|
phenotype |
|
Finding
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Stereotypical hand wringing
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
8
|
5
|
0.100 |
None |
|
0 |
|
|
|
Large face
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed eruption of primary teeth
|
phenotype |
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gram-Positive Bacterial Infections
|
group |
Infections
|
Disease or Syndrome
|
17
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Abnormality of the ureter
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperacusis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
9
|
0.100 |
None |
|
0 |
|
|
|
Bruxism
|
phenotype |
Stomatognathic Diseases
|
Mental or Behavioral Dysfunction
|
24
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Clinodactyly of the 2nd toe
|
disease |
|
Anatomical Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Moderate sensorineural hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Widened subarachnoid space
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mild neurosensory hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Social Communication Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
40
|
4
|
0.100 |
None |
|
0 |
|
|
|
Taurodontism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
40
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal localization of kidney
|
disease |
|
Anatomical Abnormality
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Shortening of all distal phalanges of the fingers
|
phenotype |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired pain sensation
|
phenotype |
|
Finding
|
41
|
4
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.720 |
strong |
1.000 |
12 |
29
|
1992 |
2017 |