MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Brain Stem Neoplasms, Primary
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mesencephalic Neoplasms
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pontine Tumors
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Brain Stem Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Medullary Neoplasms
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Autosome Abnormalities
|
group |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chromosome Aberrations
|
group |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Supratentorial Embryonal Tumor, Not Otherwise Specified
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
22
|
4
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
THYROID CARCINOMA, SPORADIC MEDULLARY
|
disease |
|
Neoplastic Process
|
22
|
11
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.310 |
None |
1.000 |
2 |
|
2013 |
2015 |
Persistent Hyperplastic Primary Vitreous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
33
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Chloracne
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
38
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cortical bone morphology
|
disease |
|
Anatomical Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Medullomyoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2013 |
Melanotic medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2013 |
Reticuloendotheliosis, X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Neoplastic Process
|
48
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Verrucous carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
49
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Monoclonal B-Cell Lymphocytosis
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
49
|
7
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hereditary Melanoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
50
|
67
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Infant Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
52
|
8
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2014 |
L2 Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
53
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |