Early infantile epileptic encephalopathy with suppression bursts
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
10
|
0.780 |
definitive |
0.944 |
18 |
1
|
2007 |
2018 |
Lissencephaly, X-Linked, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
25
|
0.740 |
None |
1.000 |
7 |
25
|
2002 |
2016 |
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
1
|
0.740 |
strong |
1.000 |
6 |
1
|
1996 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
30
|
0.700 |
definitive |
1.000 |
28 |
14
|
2002 |
2018 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.700 |
definitive |
0.960 |
25 |
1
|
2002 |
2018 |
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.700 |
strong |
1.000 |
19 |
7
|
2002 |
2015 |
Proud Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
1
|
0.700 |
strong |
1.000 |
2 |
1
|
2002 |
2004 |
Hydranencephaly and Abnormal Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.600 |
moderate |
1.000 |
1 |
2
|
2004 |
2004 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.500 |
None |
1.000 |
26 |
1
|
2002 |
2019 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.460 |
None |
1.000 |
8 |
|
2002 |
2015 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.320 |
None |
0.667 |
3 |
|
1999 |
2006 |
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.300 |
None |
0.917 |
12 |
1
|
2002 |
2017 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.300 |
None |
1.000 |
2 |
|
2002 |
2009 |
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 |
40 |
1
|
2002 |
2019 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.160 |
None |
1.000 |
6 |
|
2004 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.150 |
None |
0.800 |
5 |
1
|
2007 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.150 |
None |
1.000 |
5 |
|
2007 |
2014 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.140 |
None |
1.000 |
4 |
|
2005 |
2014 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.130 |
None |
0.667 |
3 |
|
2010 |
2013 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.120 |
None |
1.000 |
2 |
|
2005 |
2008 |
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
239
|
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |