Juvenile Spinal Muscular Atrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
17
|
0.300 |
None |
|
0 |
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
34
|
8
|
0.300 |
None |
|
0 |
|
|
|
Spinal Muscular Atrophies of Childhood
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
|
0 |
|
|
|
Muscular Atrophy, Spinal, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
9
|
0.300 |
None |
|
0 |
|
|
|
Muscular atrophy, spinal, infantile chronic form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Gait, Shuffling
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Waddling gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
113
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb muscle weakness
|
phenotype |
|
Finding
|
49
|
11
|
0.100 |
None |
|
0 |
2
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive distal muscle weakness
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
1
|
|
|
Ankle contracture
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Premature Birth
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
192
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Proximal lower limb amyotrophy
|
phenotype |
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
1
|
|
|
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
12
|
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 |
1
|
|
|