MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
definitive |
1.000 |
7 |
4
|
2006 |
2018 |
Lower extremity joint dislocation
|
phenotype |
Musculoskeletal Diseases; Wounds and Injuries
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Lumbar hypertrichosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vena cava morphology
|
phenotype |
|
Anatomical Abnormality
|
2
|
1
|
0.100 |
None |
|
0 |
|
|
|
Patchy hypo- and hyperpigmentation
|
disease |
|
Disease or Syndrome
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Regional abnormality of skin
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal hair whorl
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hypointensity of cerebral white matter on MRI
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent cutaneous abscess formation
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent ear infections
|
group |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad face
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral talipes equinovarus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
16
|
6
|
0.100 |
None |
|
0 |
|
|
|
Low hanging columella
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad neck
|
phenotype |
|
Finding
|
22
|
10
|
0.100 |
None |
|
0 |
|
|
|
Peripheral pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the pons
|
phenotype |
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Clubbing of toes
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperbilirubinemia, Neonatal
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
33
|
15
|
0.100 |
None |
|
0 |
|
|
|
Echolalia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Preauricular dimple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Almond-shaped palpebral fissure
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Prominent supraorbital ridges
|
phenotype |
|
Finding
|
41
|
10
|
0.100 |
None |
|
0 |
|
|
|
Deep philtrum
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Chronic constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
47
|
16
|
0.100 |
None |
|
0 |
|
|
|
Overriding toe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
47
|
13
|
0.100 |
None |
|
0 |
|
|
|