Cyclin-dependent kinase-like 5 deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
116
|
0.200 |
None |
1.000 |
36 |
116
|
2005 |
2020 |
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
disease |
|
Disease or Syndrome
|
33
|
59
|
0.100 |
None |
1.000 |
51 |
56
|
1997 |
2017 |
Rett Syndrome, Atypical
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
47
|
0.500 |
None |
0.923 |
13 |
41
|
2008 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
57
|
43
|
0.700 |
definitive |
0.972 |
36 |
17
|
2003 |
2019 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.500 |
None |
0.967 |
30 |
6
|
2004 |
2019 |
Retinoschisis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
13
|
6
|
0.100 |
None |
|
0 |
6
|
|
|
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.200 |
None |
0.966 |
29 |
5
|
2007 |
2019 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.500 |
None |
0.962 |
78 |
3
|
2004 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.500 |
None |
1.000 |
39 |
3
|
2005 |
2019 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.200 |
None |
1.000 |
22 |
3
|
2004 |
2019 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.110 |
None |
1.000 |
18 |
3
|
2004 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.400 |
None |
0.975 |
40 |
2
|
2004 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
17 |
2
|
2004 |
2016 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.200 |
None |
1.000 |
12 |
2
|
2008 |
2019 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.200 |
None |
1.000 |
10 |
2
|
2002 |
2019 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
2
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.200 |
None |
1.000 |
15 |
1
|
2003 |
2019 |
Craniodiaphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
2
|
0.100 |
None |
1.000 |
11 |
1
|
2019 |
2020 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.100 |
None |
1.000 |
11 |
1
|
2008 |
2020 |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
2
|
0.100 |
None |
1.000 |
11 |
1
|
2019 |
2020 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.190 |
None |
1.000 |
9 |
1
|
2008 |
2018 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.070 |
None |
1.000 |
7 |
1
|
2003 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.140 |
None |
0.750 |
4 |
1
|
2010 |
2017 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |