X-linked cerebral, cerebellar, coloboma syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
1
2
0.100
None
1.000
1
2
2012
2012
Static encephalopathy
disease
Nervous System Diseases
Disease or Syndrome
3
0.010
None
< 0.001
1
2015
2015
Infantile Spasm
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
93
39
0.110
None
1.000
1
1
2017
2017
Brain atrophy
disease
Nervous System Diseases
Disease or Syndrome
182
46
0.010
None
1.000
1
2017
2017
Dysautonomia
disease
Nervous System Diseases
Disease or Syndrome
148
18
0.100
None
0
Optic Atrophy
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
568
51
0.100
None
0
Cerebellar atrophy
disease
Disease or Syndrome
321
67
0.100
None
0
Gross motor development delay
disease
Mental Disorders
Disease or Syndrome
118
59
0.100
None
0
1
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
10
2
2010
2017
Overgrowth
phenotype
Finding
103
93
0.100
None
1.000
10
1
2010
2017
Asymptomatic
phenotype
Finding
2
1
0.100
None
1.000
3
1
2012
2013
Poor school performance
phenotype
Finding
211
411
0.100
None
1.000
3
2
2012
2013
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Delayed speech and language development
phenotype
Behavior and Behavior Mechanisms
Finding
560
192
0.100
None
0
1
Abnormal ocular motility
phenotype
Finding
45
6
0.100
None
0
Frontal release signs
phenotype
Nervous System Diseases
Finding
3
0.100
None
0
Progressive encephalopathy
phenotype
Nervous System Diseases
Finding
14
5
0.100
None
0
Narrow forehead
phenotype
Finding
106
20
0.100
None
0
1
X-linked dominant inheritance
phenotype
Finding
65
0.100
None
0
Poor speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
208
9
0.100
None
0
Absent speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
232
72
0.100
None
0
1
Iron accumulation in substantia nigra
phenotype
Finding
3
1
0.100
None
0
Aggressive behavior
phenotype
Behavior and Behavior Mechanisms
Individual Behavior
176
22
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.160
None
1.000
6
2
2015
2020
Developmental delay (disorder)
phenotype
Mental Disorders
Mental or Behavioral Dysfunction
584
68
0.040
None
1.000
4
2016
2019