MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
definitive |
1.000 |
3 |
|
2007 |
2012 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
10
|
0.720 |
definitive |
1.000 |
10 |
10
|
1991 |
2020 |
Aggressive outburst
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Cavovarus deformity of foot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Anatomical Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Abnormality of earlobe
|
disease |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Glycogen Storage Disease Type IIb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
40
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Abnormal hair pattern
|
disease |
|
Anatomical Abnormality
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital pes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
15
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Intention tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
20
|
6
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Obesity, Abdominal
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the musculature
|
phenotype |
|
Anatomical Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Neonatal encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
10
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
|
|
|
Down-sloping shoulders
|
phenotype |
|
Finding
|
32
|
4
|
0.100 |
None |
|
0 |
|
|
|
Acquired cubitus valgus
|
disease |
|
Acquired Abnormality
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Open Bite
|
phenotype |
Stomatognathic Diseases
|
Congenital Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
|
|
|
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Acanthosis Nigricans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
64
|
11
|
0.100 |
None |
|
0 |
|
|
|
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|