HSAN Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
32
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Royer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
Acromicria
|
disease |
|
Congenital Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow palm
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Acromicric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
31
|
0.100 |
None |
|
0 |
|
|
|
Obesity, Abdominal
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Gross motor impairment
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypopigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Pathologic Function
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Clitoral hypoplasia
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic labia minora
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Oligomenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
1
|
0.100 |
None |
|
0 |
|
|
|
Almond-shaped palpebral fissure
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Impaired pain sensation
|
phenotype |
|
Finding
|
41
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism, Isolated Hypogonadotropic
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
42
|
8
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Narrow nasal bridge
|
phenotype |
|
Finding
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of scrotum
|
phenotype |
|
Congenital Abnormality
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperphagia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|