LISSENCEPHALY 6 WITH MICROCEPHALY
|
disease |
|
Congenital Abnormality
|
1
|
6
|
0.700 |
None |
1.000 |
3 |
6
|
2014 |
2016 |
Impairment of attention
|
disease |
|
Mental or Behavioral Dysfunction
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Equilibration disorder
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.400 |
None |
1.000 |
2 |
|
2014 |
2014 |
Congenital microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
51
|
29
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Malformations of Cortical Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
60
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neuronal heterotopia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
67
|
3
|
0.100 |
None |
|
0 |
|
|
|
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Follicular adenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
183
|
5
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
|
|
|
Thyroid Gland Follicular Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
202
|
14
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Oligospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
217
|
72
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Carcinoma, Papillary
|
disease |
Neoplasms
|
Neoplastic Process
|
225
|
9
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Anaplastic thyroid carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
392
|
16
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2009 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|