X- linked recessive
phenotype
Finding
172
1
0.100
None
0
Widened subarachnoid space
phenotype
Finding
35
1
0.100
None
0
Urinary Incontinence
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Pathologic Function
151
14
0.100
None
0
Tumor Cell Invasion
phenotype
Neoplastic Process
6626
169
0.010
None
1.000
1
2003
2003
Trichohepatoenteric Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
Disease or Syndrome
424
28
0.010
None
1.000
1
2015
2015
Tonic - clonic seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
300
32
0.100
None
0
Thin upper lip vermilion
phenotype
Finding
211
25
0.100
None
0
Thick lower lip vermilion
phenotype
Finding
145
10
0.100
None
0
Small for gestational age fetus
phenotype
Pathological Conditions, Signs and Symptoms
Finding
156
0.100
None
0
Small for gestational age (disorder)
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
Finding
181
34
0.100
None
0
Shortening of all distal phalanges of the fingers
phenotype
Finding
40
0.100
None
0
Severe intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
429
74
0.100
None
0
Pyloric Stenosis
phenotype
Digestive System Diseases
Pathologic Function
121
4
0.100
None
0
Profound intellectual disabilities
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
112
10
0.100
None
0
Poor speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
208
9
0.100
None
0
Periorbital fullness
phenotype
Finding
57
4
0.100
None
0
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.010
None
1.000
1
2019
2019
Obesity
disease
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
Disease or Syndrome
2821
1111
0.110
None
1.000
1
2017
2017
Moderate sensorineural hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Finding
34
1
0.100
None
0
Moderate intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
251
94
0.100
None
0
Mild neurosensory hearing impairment
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
35
0.100
None
0
Mild Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
340
56
0.100
None
0
Midface retrusion
phenotype
Finding
228
0.100
None
0
Mental Retardation, X-Linked Nonsyndromic
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
16
2
0.300
moderate
1.000
7
1993
2015
Mental Retardation, X-Linked 9
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
5
0.500
strong
1.000
1
2004
2004