Urinary Incontinence
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
151
|
14
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Spastic gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
Urinary Urgency, CTCAE 5
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.100 |
None |
|
0 |
|
|
|
Urinary bladder sphincter dysfunction
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia in upper limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired vibration sensation in the lower limbs
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Lower limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
43
|
5
|
0.100 |
None |
|
0 |
|
|
|
Profound intellectual disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
112
|
10
|
0.100 |
None |
|
0 |
|
|
|
Progressive spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.080 |
None |
1.000 |
8 |
|
1992 |
2019 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.080 |
None |
1.000 |
8 |
1
|
1998 |
2018 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.080 |
None |
0.875 |
8 |
|
2005 |
2019 |
Mycobacterium avium-intracellulare Infection
|
disease |
Infections
|
Disease or Syndrome
|
58
|
5
|
0.080 |
None |
1.000 |
8 |
|
2002 |
2018 |