Ridged nails
|
phenotype |
|
Finding
|
22
|
|
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 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebellar atrophy
|
phenotype |
|
Finding
|
17
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dystrophic fingernails
|
phenotype |
|
Finding
|
27
|
|
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 |
|
|
|
Impaired social reciprocity
|
disease |
|
Mental or Behavioral Dysfunction
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Paraplegia/paraparesis
|
disease |
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital exfoliative erythroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
12
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of prenatal development or birth
|
disease |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Tiger tail banding
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Increased mean corpuscular hemoglobin concentration
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral dysmyelination
|
phenotype |
|
Finding
|
17
|
6
|
0.100 |
None |
|
0 |
|
|
|
Protruding ear
|
phenotype |
|
Finding
|
152
|
6
|
0.100 |
None |
|
0 |
|
|
|