Stereotypical body rocking
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent hand flapping
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent ear helix
|
phenotype |
|
Finding
|
4
|
3
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked 19
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
9
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
FRAXA Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
|
0 |
|
|
|
FRAXE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
2
|
0.740 |
definitive |
1.000 |
13 |
1
|
1993 |
2013 |
developmentally delayed
|
phenotype |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Borderline intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
16
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Coffin-Lowry syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
23
|
25
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Mucopolysaccharidosis II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
69
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2001 |
Clumsiness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
48
|
3
|
0.100 |
None |
|
0 |
|
|
|
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hoarseness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Obsessive compulsive behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
94
|
16
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Agitation
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
109
|
4
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.040 |
None |
1.000 |
4 |
|
1994 |
2001 |
Adult Oligodendroglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
154
|
19
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Oligodendroglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
154
|
19
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|