Persistent Ostium Primum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
X-Linked, Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Phimosis
|
phenotype |
Male Urogenital Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked 19
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
9
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
HMSN Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Dry hair
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Ankylosis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the rib cage
|
disease |
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Renpenning syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.800 |
definitive |
1.000 |
25 |
5
|
1994 |
2019 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Coffin-Lowry syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
23
|
25
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
27
|
7
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
3 |
|
2003 |
2006 |
Ostium secundum atrial septal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
37
|
10
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Little's Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
37
|
6
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.310 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2006 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
3 |
|
2003 |
2006 |
Brittle hair
|
disease |
|
Disease or Syndrome
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Contracture of joint of hand
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
80
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |