Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Salaam Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
75
|
9
|
0.100 |
None |
|
0 |
|
|
|
Multifocal cerebral white matter abnormalities
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Stereotypic Movement Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
192
|
26
|
0.100 |
None |
|
0 |
|
|
|
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Large fleshy ears
|
phenotype |
|
Finding
|
13
|
3
|
0.100 |
None |
|
0 |
|
|
|
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absence of septum pellucidum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
2
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.100 |
None |
|
0 |
|
|
|
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.100 |
None |
|
0 |
|
|
|
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.100 |
None |
|
0 |
|
|
|
Multifocal epileptiform discharges
|
phenotype |
|
Finding
|
52
|
9
|
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 |
|
|
|
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellar vermis
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
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 |
|
|
|