MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
5
|
0.700 |
strong |
1.000 |
2 |
5
|
2015 |
2017 |
MiT family translocation renal cell carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
33
|
|
0.310 |
None |
1.000 |
3 |
|
1997 |
2017 |
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
AUTISM, SUSCEPTIBILITY TO, 15
|
disease |
|
Finding
|
9
|
3
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
|
2015 |
2019 |
Left ventricular noncompaction
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
26
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ebstein Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
3
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sleep Apnea, Obstructive
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
480
|
105
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Bilateral Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
48
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dysgenesis of corpus callosum
|
disease |
|
Congenital Abnormality
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.100 |
None |
|
0 |
|
|
|
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
12
|
0.100 |
None |
|
0 |
|
|
|
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|