SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
|
0.600 |
moderate |
1.000 |
2 |
|
2014 |
2016 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 9
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.730 |
None |
1.000 |
6 |
7
|
2013 |
2020 |
STICKLER SYNDROME, TYPE II (disorder)
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
9
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Gait, Scissors
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short upper lip
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Glycogen Storage Disease Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
76
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Pontoneocerebellar hypoplasia
|
disease |
|
Disease or Syndrome
|
27
|
10
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Adult Undifferentiated Pleomorphic Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
27
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood Undifferentiated Pleomorphic Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
27
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
32
|
7
|
0.320 |
strong |
1.000 |
2 |
|
2013 |
2018 |
Facial hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Clonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2019 |
Malignant Fibrous Histiocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
150
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|