Motor axonal neuropathy
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Prolonged neonatal jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
59
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Plantar hyperkeratosis
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
39
|
6
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Hypotension, Orthostatic
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
82
|
21
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Anisocoria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
7
|
5
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
6 |
1
|
1980 |
2015 |
Glucocorticoid deficiency with achalasia
|
disease |
Digestive System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
17
|
20
|
0.800 |
None |
0.980 |
50 |
18
|
2000 |
2019 |
Alacrima
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
16
|
1
|
0.150 |
None |
1.000 |
5 |
1
|
2003 |
2013 |
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.010 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.140 |
None |
1.000 |
4 |
|
2005 |
2010 |
Adrenal cortical hypofunction
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
52
|
5
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2010 |
Esophageal Achalasia
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
49
|
5
|
0.130 |
None |
1.000 |
3 |
1
|
2005 |
2009 |
Achalasia
|
disease |
|
Disease or Syndrome
|
40
|
5
|
0.030 |
None |
1.000 |
3 |
1
|
2005 |
2009 |
Dysautonomia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.120 |
None |
1.000 |
2 |
1
|
2005 |
2019 |