WITTEVEEN-KOLK SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.600 |
strong |
1.000 |
2 |
7
|
2015 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.410 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.410 |
None |
1.000 |
1 |
|
2016 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Fetal Cerebral Ventriculomegaly
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
15q24 Microdeletion
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Corpus Callosum Malformation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aqueductal Stenosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
2
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
AUTISM, SUSCEPTIBILITY TO, 15
|
disease |
|
Finding
|
9
|
3
|
0.300 |
moderate |
1.000 |
1 |
|
2016 |
2016 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hydrocephalus Ex-Vacuo
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital Hydrocephalus
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Post-Traumatic Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Communicating Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Obstructive Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |