Duplication 15q11-q13 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Paroxysmal bursts of laughter
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Chromosome 15q, trisomy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
7
|
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2019 |
Abnormality of the head
|
disease |
|
Anatomical Abnormality
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Sleep-wake cycle disturbance
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Blonde hair
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
cerebellar function
|
disease |
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cerebral cortex myoclonus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Fair hair
|
phenotype |
|
Finding
|
17
|
5
|
0.100 |
None |
|
0 |
|
|
|
Intention tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
20
|
6
|
0.010 |
None |
< 0.001 |
1 |
|
2008 |
2008 |
Tremor, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Progressive gait ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
|
|
|
Menstrual spotting
|
phenotype |
|
Sign or Symptom
|
27
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Protrusion of tongue
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
blue iris (physical finding)
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Expressive language delay
|
phenotype |
|
Disease or Syndrome
|
30
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Isodicentric Chromosome 15 Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
39
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Cerebral dysfunction
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
45
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Flat occiput
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Intellectual disability, progressive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
54
|
6
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Epithelial hyperplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
63
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|