MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.700 |
None |
1.000 |
1 |
6
|
2015 |
2018 |
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1
|
1
|
0.400 |
None |
|
0 |
1
|
|
|
EEG with generalized epileptiform discharges
|
phenotype |
|
Finding
|
2
|
4
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Upper limb hypertonia
|
phenotype |
|
Anatomical Abnormality
|
4
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Acute lymphocytic leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
5
|
12
|
0.100 |
None |
|
0 |
2
|
|
|
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Neurodevelopmental abnormality
|
phenotype |
|
Pathologic Function
|
6
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Complex partial seizure with impairment of consciousness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
7
|
10
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Multifocal epileptiform discharges
|
phenotype |
|
Finding
|
7
|
9
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Infantile axial hypotonia
|
phenotype |
|
Finding
|
7
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
10
|
12
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
11
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
15
|
24
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Expressive language delay
|
phenotype |
|
Disease or Syndrome
|
16
|
25
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
17
|
21
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Neurodevelopmental delay
|
phenotype |
|
Finding
|
17
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
21
|
27
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
21
|
24
|
0.100 |
None |
|
0 |
2
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
31
|
40
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Esotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
38
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
39
|
78
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
61
|
0.100 |
None |
|
0 |
2
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
45
|
62
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |