Mental Retardation, X-Linked, With Panhypopituitarism
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
3 |
1
|
1981 |
2005 |
Panhypopituitarism - X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.510 |
None |
1.000 |
3 |
|
1981 |
2018 |
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.460 |
None |
1.000 |
6 |
|
2005 |
2016 |
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.420 |
None |
1.000 |
4 |
|
2007 |
2014 |
XX males
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
32
|
|
0.330 |
None |
1.000 |
3 |
|
2011 |
2015 |
46, XX Testicular Disorders of Sex Development
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
11
|
1
|
0.310 |
None |
1.000 |
3 |
|
2011 |
2013 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.300 |
None |
1.000 |
3 |
|
2007 |
2014 |
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2002 |
2012 |
46,XX SEX REVERSAL 3
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
HYPERTRICHOSIS, CONGENITAL GENERALIZED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
|
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
|
0.200 |
None |
1.000 |
10 |
|
2002 |
2019 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.200 |
None |
|
0 |
|
|
|
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.170 |
None |
1.000 |
7 |
|
2002 |
2018 |
Somatotropin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
154
|
14
|
0.150 |
None |
1.000 |
5 |
|
2002 |
2015 |
Pituitary dwarfism
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
41
|
12
|
0.150 |
None |
1.000 |
5 |
1
|
2014 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2014 |
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.100 |
None |
1.000 |
15 |
1
|
2004 |
2019 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Sleep disturbances
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
311
|
74
|
0.100 |
None |
|
0 |
|
|
|