MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.700 |
strong |
1.000 |
1 |
11
|
2010 |
2010 |
SECKEL SYNDROME 5
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.600 |
None |
1.000 |
1 |
5
|
2011 |
2011 |
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.410 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.320 |
None |
1.000 |
2 |
|
2011 |
2013 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.310 |
strong |
1.000 |
1 |
|
2019 |
2019 |
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
7
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Seckel syndrome 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
8
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Skin Pigmentation
|
phenotype |
|
Organ or Tissue Function
|
24
|
72
|
0.100 |
None |
1.000 |
1 |
2
|
2007 |
2007 |
Frontal lobe hypoplasia
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Prematurely aged appearance
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sparse scalp hair
|
phenotype |
|
Finding
|
85
|
7
|
0.100 |
None |
|
0 |
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cortical gyration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Finding
|
17
|
12
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Absent earlobe
|
phenotype |
|
Congenital Abnormality
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Selective tooth agenesis
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Cone-shaped epiphysis
|
phenotype |
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.100 |
None |
|
0 |
|
|
|
Large beaked nose
|
disease |
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|