McLeod neuroacanthocytosis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Pallidal degeneration
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
|
disease |
|
Finding
|
1
|
5
|
0.100 |
None |
|
0 |
5
|
|
|
Physical aggression
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Eye of the tiger anomaly of globus pallidus
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Spondyloepiphyseal dysplasia, Omani type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
16
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Verbal repetition
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Iron accumulation in brain
|
phenotype |
|
Finding
|
3
|
38
|
0.100 |
None |
|
0 |
|
|
|
Inertia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Knee stiff
|
phenotype |
|
Sign or Symptom
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Coenzyme A synthase protein associated neurodegeneration
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Apraxia of eyelid
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Tic, Motor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
5
|
0.620 |
None |
1.000 |
3 |
5
|
2002 |
2006 |
Acanthocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.030 |
None |
0.667 |
3 |
|
2005 |
2015 |
Ceruloplasmin deficiency
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
51
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2018 |
Spastic paraplegia 11, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
134
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Decreased LDL cholesterol concentration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Facial grimacing
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atrophy of tongue
|
disease |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
KUFOR-RAKEB SYNDROME
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
16
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Pigmentary retinopathy
|
disease |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Generalized dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hallermann's Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
13
|
1
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2005 |
Abnormal posture
|
phenotype |
Nervous System Diseases
|
Finding
|
13
|
7
|
0.100 |
None |
|
0 |
|
|
|