Startle epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
MENTAL RETARDATION, X-LINKED 34 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
definitive |
1.000 |
6 |
|
1999 |
2017 |
Complex Glycerol Kinase Deficiency
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Atkin syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.600 |
definitive |
1.000 |
6 |
|
1999 |
2017 |
Uplifted earlobe
|
disease |
|
Anatomical Abnormality
|
6
|
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 |
Abnormality of digit
|
phenotype |
|
Anatomical Abnormality
|
9
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
High-functioning autism
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
15
|
5
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Schizophrenia and related disorders
|
group |
Mental Disorders
|
Disease or Syndrome
|
20
|
5
|
0.310 |
None |
1.000 |
1 |
|
2011 |
2011 |
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 |
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 |
|
|
|
Pseudocholinesterase Measurement
|
phenotype |
|
Laboratory Procedure
|
39
|
568
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Shortening of all distal phalanges of the fingers
|
phenotype |
|
Finding
|
40
|
|
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
|
0.310 |
None |
1.000 |
2 |
|
2006 |
2008 |
Circadian Rhythms
|
phenotype |
|
Organism Function
|
45
|
84
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Congenital hypoplasia of adrenal gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
45
|
13
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Contiguous gene syndrome
|
disease |
|
Disease or Syndrome
|
52
|
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2011 |
X-linked Adrenal Hypoplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
57
|
70
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Periorbital fullness
|
phenotype |
|
Finding
|
57
|
4
|
0.100 |
None |
|
0 |
|
|
|
Meckel Diverticulum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
63
|
|
0.100 |
None |
|
0 |
|
|
|
Waist Circumference
|
phenotype |
|
Clinical Attribute
|
70
|
183
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.100 |
None |
|
0 |
|
|
|