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
Asymptomatic
phenotype
Finding
2
1
0.100
None
1.000
3
1
2012
2013
Static encephalopathy
disease
Nervous System Diseases
Disease or Syndrome
3
0.010
None
< 0.001
1
2015
2015
Frontal release signs
phenotype
Nervous System Diseases
Finding
3
0.100
None
0
Iron accumulation in substantia nigra
phenotype
Finding
3
1
0.100
None
0
Progressive encephalopathy
phenotype
Nervous System Diseases
Finding
14
5
0.100
None
0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
19
28
0.800
strong
1.000
35
28
2012
2020
Cognitive deterioration
disease
Mental or Behavioral Dysfunction
39
3
0.010
None
1.000
1
2014
2014
Neurodegeneration with brain iron accumulation (NBIA)
disease
Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
40
2
0.600
strong
1.000
15
2012
2020
Abnormal ocular motility
phenotype
Finding
45
6
0.100
None
0
Heart Failure, Diastolic
disease
Cardiovascular Diseases
Disease or Syndrome
55
9
0.300
None
1.000
1
2018
2018
X-linked dominant inheritance
phenotype
Finding
65
0.100
None
0
Salaam Seizures
disease
Nervous System Diseases
Disease or Syndrome
75
9
0.010
None
1.000
1
1
2015
2015
Paraparesis, Spastic
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
75
37
0.100
None
0
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2018
2018
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2018
2018
Mitochondrial abnormalities
disease
Anatomical Abnormality
83
20
0.010
None
1.000
1
2018
2018
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2018
2018
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
Overgrowth
phenotype
Finding
103
93
0.100
None
1.000
10
1
2010
2017
Narrow forehead
phenotype
Finding
106
20
0.100
None
0
1
Extrapyramidal sign
phenotype
Sign or Symptom
116
7
0.010
None
1.000
1
2015
2015
Gross motor development delay
disease
Mental Disorders
Disease or Syndrome
118
59
0.100
None
0
1
Bradykinesia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
133
16
0.100
None
0
Dysautonomia
disease
Nervous System Diseases
Disease or Syndrome
148
18
0.100
None
0