Pachygyria, frontotemporal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.700 |
None |
1.000 |
2 |
4
|
2012 |
2016 |
Increased head circumference
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Macroencephaly
|
disease |
|
Congenital Abnormality
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Large basal ganglia
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Multifocal epileptiform discharges
|
phenotype |
|
Finding
|
52
|
9
|
0.100 |
None |
|
0 |
|
|
|
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.130 |
None |
1.000 |
3 |
|
2016 |
2019 |
Salaam Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Reduced concentration span
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
77
|
2
|
0.100 |
None |
|
0 |
|
|
|
Absence of septum pellucidum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.120 |
None |
1.000 |
2 |
|
2019 |
2020 |
Sarcomatoid Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
134
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.100 |
None |
|
0 |
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Collecting Duct Carcinoma of the Kidney
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
162
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Osteoarthritis of hip
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
164
|
121
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.100 |
None |
|
0 |
|
|
|
Chromophobe Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
185
|
2
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Stereotypic Movement Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
192
|
26
|
0.100 |
None |
|
0 |
|
|
|
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
13
|
0.100 |
None |
|
0 |
|
|
|