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 |
|
2011 |
2011 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
None |
1.000 |
1 |
|
2011 |
2011 |
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 |
|
2011 |
2011 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
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 |
|
2011 |
2011 |
Nijmegen Breakage Syndrome
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
144
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Medial flaring of the eyebrow
|
disease |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
External genital hypoplasia
|
phenotype |
|
Finding
|
29
|
2
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Multicystic Dysplastic Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
121
|
11
|
0.100 |
None |
|
0 |
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.300 |
strong |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|