Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Scotoma
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Chronic pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
207
|
19
|
0.100 |
None |
|
0 |
|
|
|
Contracture of joint of hand
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Romberg's sign positive
|
phenotype |
|
Finding
|
15
|
6
|
0.100 |
None |
|
0 |
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Osteomyelitis
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
121
|
14
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Truncal titubation
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital Camptodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
123
|
10
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Axonal degeneration
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Impaired vibration sensation in the lower limbs
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Decreased sensory nerve conduction velocity
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Undetectable electroretinogram
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of finger
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|