Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
|
|
|
Decreased CSF homovanillic acid
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Sialorrhea
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Brisk reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.100 |
None |
|
0 |
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
56
|
0.720 |
definitive |
1.000 |
45 |
52
|
1964 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.200 |
None |
1.000 |
1 |
|
1978 |
1978 |
Pheochromocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
344
|
186
|
0.400 |
None |
1.000 |
13 |
|
1985 |
2016 |
Adrenal Gland Pheochromocytoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
416
|
50
|
0.100 |
None |
1.000 |
12 |
|
1985 |
2016 |
Acute myelomonocytic leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
105
|
3
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Childhood Acute Myelomonocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Adult Acute Myelomonocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
3
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1548
|
91
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Uremia
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
2
|
0.200 |
None |
1.000 |
1 |
|
1986 |
1986 |
Hyperphenylalaninemia, Non-Phenylketonuric
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.020 |
None |
1.000 |
2 |
|
1987 |
1997 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
38
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.600 |
None |
0.979 |
141 |
3
|
1989 |
2020 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.400 |
None |
0.950 |
60 |
2
|
1989 |
2018 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.100 |
None |
0.964 |
56 |
2
|
1989 |
2018 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.100 |
None |
0.964 |
56 |
2
|
1989 |
2018 |