Microdeletion syndromes
disease
Disease or Syndrome
18
0.010
None
1.000
1
2012
2012
Parkinson Disease
disease
Nervous System Diseases
Disease or Syndrome
2078
990
0.010
None
1.000
1
2018
2018
Neuroblastoma
disease
Neoplasms
Neoplastic Process
2509
386
0.010
None
1.000
1
2013
2013
DEAFNESS, X-LINKED 4 (disorder)
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
2
6
0.010
None
1.000
1
1998
1998
Speech Delay
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
58
11
0.010
None
1.000
1
2015
2015
Methylmalonic acidemia
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
44
35
0.010
None
1.000
1
2018
2018
Cryptogenic Infantile Spasms
disease
Nervous System Diseases
Disease or Syndrome
8
0.010
None
1.000
1
2006
2006
Mild Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
340
56
0.010
None
1.000
1
2008
2008
Anxiety and fear
disease
Mental or Behavioral Dysfunction
51
0.010
None
1.000
1
2018
2018
Familial (FPAH)
disease
Disease or Syndrome
1075
276
0.010
None
1.000
1
2017
2017
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.010
None
1.000
1
2019
2019
Neonatal encephalopathy
disease
Nervous System Diseases
Disease or Syndrome
26
10
0.010
None
1.000
1
2014
2014
Memory impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
763
48
0.010
None
1.000
1
2017
2017
ATRIAL SEPTAL DEFECT 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Disease or Syndrome
91
16
0.010
None
1.000
1
2019
2019
Orofaciodigital syndrome type1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
2
0.010
None
1.000
1
1998
1998
Neonatal hemochromatosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
13
0.010
None
1.000
1
1998
1998
Severe psychomotor retardation
phenotype
Mental or Behavioral Dysfunction
22
3
0.010
None
1.000
1
2020
2020
Aicardi's syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Disease or Syndrome
7
0.010
None
< 0.001
1
2010
2010
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.010
None
1.000
1
2011
2011
Psychiatric symptom
phenotype
Sign or Symptom
95
12
0.010
None
1.000
1
2018
2018
Sleep Apnea Syndromes
disease
Respiratory Tract Diseases; Nervous System Diseases
Disease or Syndrome
148
18
0.010
None
1.000
1
2017
2017
Abnormal behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
910
121
0.010
None
1.000
1
2012
2012
Salaam Seizures
disease
Nervous System Diseases
Disease or Syndrome
75
9
0.010
None
1.000
1
2019
2019
Profound Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
160
3
0.010
None
1.000
1
2008
2008
Developmental Disabilities
group
Mental Disorders
Mental or Behavioral Dysfunction
355
19
0.010
None
1.000
1
2005
2005