SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.710 |
None |
1.000 |
7 |
7
|
2006 |
2018 |
Gaze palsy
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atypical juvenile parkinsonism
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Lingual dystonia
|
phenotype |
|
Sign or Symptom
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2012 |
Facial Myokymia
|
phenotype |
Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
5
|
1
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Apraxia of eyelid
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
EMG: axonal abnormality
|
phenotype |
|
Pathologic Function
|
6
|
4
|
0.100 |
None |
|
0 |
|
|
|
Stooped posture
|
phenotype |
Nervous System Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Upgaze palsy
|
disease |
|
Disease or Syndrome
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Phospholipidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Difficulty in tongue movements
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of finger
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Spastic paraplegia 11, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
134
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Oculogyric crisis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Progressive pes cavus
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive extrapyramidal movement disorder
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal caudate nucleus morphology
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
KUFOR-RAKEB SYNDROME
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
16
|
1.000 |
None |
0.981 |
54 |
15
|
1991 |
2019 |
Atypical Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Anarthria speech disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Parkinson Disease, Secondary Vascular
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Atherosclerotic Parkinsonism
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Progressive spastic quadriplegia
|
phenotype |
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|