ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
16
|
0.770 |
strong |
1.000 |
10 |
16
|
2014 |
2018 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.500 |
None |
1.000 |
15 |
2
|
2014 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.360 |
None |
1.000 |
6 |
|
2011 |
2019 |
Fetal Alcohol Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders
|
Disease or Syndrome
|
89
|
8
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fetus or newborn affected by alcohol transmitted via placenta or breast milk
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders
|
Finding
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.200 |
None |
1.000 |
12 |
|
2007 |
2019 |
Ischemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
103
|
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hypoxia-Ischemia, Brain
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
81
|
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Brain Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
114
|
11
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
11 |
1
|
2001 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
11 |
5
|
2001 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
11 |
1
|
2001 |
2017 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
11 |
3
|
2001 |
2017 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
78
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.100 |
None |
|
0 |
|
|
|
Wide spaced nipples
|
phenotype |
|
Finding
|
96
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of facial musculature
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|