Pontocerebellar Hypoplasia Type 2C
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
2 |
1
|
2008 |
2011 |
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
7
|
|
0.400 |
None |
1.000 |
1 |
|
2008 |
2008 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
67
|
|
0.400 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
13
|
|
0.310 |
strong |
1.000 |
1 |
|
2008 |
2011 |
Metamorphopsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
39
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Pontocerebellar Hypoplasia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Vision Disability
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Esophageal Dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Oropharyngeal Dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
8
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hemeralopia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
139
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
29
|
240
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Vision Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Micropsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Macropsia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Etat Marbre
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |