HHH syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
21
|
0.800 |
None |
0.952 |
21 |
21
|
1999 |
2016 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.130 |
None |
1.000 |
3 |
|
1999 |
2004 |
Hyperornithinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
65
|
0.120 |
None |
1.000 |
2 |
2
|
2001 |
2010 |
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Acute encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased vibratory sense
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
8
|
0.100 |
None |
|
0 |
|
|
|
Poor coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
26
|
8
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
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 |
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Orotic aciduria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Multifocal cerebral white matter abnormalities
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|
Chorioretinal atrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
|
|
|
Chorioretinal hypopigmentation
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Morphological abnormality of the pyramidal tract
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Protein avoidance
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|