Hypoplasia of the ventral pons
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
|
disease |
|
Disease or Syndrome
|
5
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Mass lesion of brain
|
disease |
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Anterior Horn Cell Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Neuronal loss in basal ganglia
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Axonal sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pontocerebellar Hypoplasia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
10
|
15
|
0.720 |
None |
1.000 |
6 |
10
|
2009 |
2016 |
Basal ganglia gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Degeneration of anterior horn cells
|
phenotype |
Nervous System Diseases
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Distal Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
8
|
0.020 |
None |
1.000 |
2 |
2
|
2016 |
2019 |
Pontoneocerebellar hypoplasia
|
disease |
|
Disease or Syndrome
|
27
|
10
|
0.080 |
None |
1.000 |
8 |
1
|
2000 |
2019 |
Olivopontocerebellar Atrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
EMG: neuropathic changes
|
phenotype |
|
Finding
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
32
|
7
|
0.380 |
strong |
1.000 |
9 |
1
|
2000 |
2019 |
Peripheral motor neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
64
|
20
|
0.020 |
None |
1.000 |
2 |
|
2020 |
2020 |
Foot Deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
66
|
5
|
0.100 |
None |
|
0 |
|
|
|
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |