Chromosome 1p36 Deletion Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Disease or Syndrome
6
0.520
None
1.000
7
2001
2012
Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
1215
339
0.310
None
1.000
1
2001
2001
Awakening Epilepsy
disease
Nervous System Diseases
Disease or Syndrome
83
0.300
None
1.000
1
2001
2001
Epilepsy, Cryptogenic
disease
Nervous System Diseases
Disease or Syndrome
88
4
0.300
None
1.000
1
2001
2001
×
CUI:
C0236018
Disease:
Aura
Aura
phenotype
Nervous System Diseases
Finding
83
0.300
None
1.000
1
2001
2001
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.110
None
1.000
1
2001
2001
QT interval feature (observable entity)
phenotype
Clinical Attribute
75
226
0.100
None
1.000
1
1
2014
2014
Depressed nasal bridge
phenotype
Finding
426
39
0.100
None
0
11 pairs of ribs
phenotype
Finding
20
3
0.100
None
0
Cerebral ventriculomegaly
phenotype
Nervous System Diseases
Finding
410
0.100
None
0
Depressed nasal ridge
phenotype
Finding
117
1
0.100
None
0
Hip Dysplasia
disease
Musculoskeletal Diseases; Wounds and Injuries
Anatomical Abnormality
128
16
0.100
None
0
Aneurysm of aortic arch
disease
Cardiovascular Diseases
Disease or Syndrome
20
0.100
None
0
Hypospadias
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Congenital Abnormality
366
80
0.100
None
0
Pointed chin
phenotype
Finding
71
13
0.100
None
0
Congenital anomaly of neck
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
26
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Simple renal cyst
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
100
2
0.100
None
0
Late fontanel closure
phenotype
Finding
41
0.100
None
0
Macule
phenotype
Finding
31
2
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Hemiplegia/hemiparesis
disease
Disease or Syndrome
112
2
0.100
None
0
Flexion contracture of proximal interphalangeal joint
phenotype
Finding
168
7
0.100
None
0
Sunken eyes
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
171
54
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0