MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
24
|
0.910 |
None |
1.000 |
12 |
24
|
2000 |
2018 |
Talipes Calcaneovarus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Small forehead
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental abnormality
|
phenotype |
|
Pathologic Function
|
7
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Diastema of Teeth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
1
|
0.300 |
definitive |
1.000 |
3 |
|
2005 |
2016 |
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
|
disease |
|
Disease or Syndrome
|
14
|
|
0.200 |
None |
1.000 |
1 |
|
2016 |
2016 |
Low frustration tolerance
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
19
|
5
|
0.300 |
None |
1.000 |
2 |
|
2008 |
2016 |
Congenital torticollis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Congenital Abnormality
|
19
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Lower limb hypertonia
|
phenotype |
|
Finding
|
21
|
5
|
0.100 |
None |
|
0 |
|
|
|
Psychomotor Agitation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Gait, Shuffling
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
|
|
|
Facial hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
33
|
6
|
0.100 |
None |
|
0 |
|
|
|
Large hand
|
phenotype |
|
Finding
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Fissured tongue
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
36
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Intellectual disability, progressive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Progressive spastic paraplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
Single tumor
|
phenotype |
|
Neoplastic Process
|
63
|
4
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Klinefelter's syndrome - male with more than two X chromosomes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
90
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |