MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
moderate |
1.000 |
2 |
8
|
2017 |
2017 |
Postpericardiotomy Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Increased adipose tissue
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellar vermis
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of finger
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Frontonasal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
8
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Flaccid Muscle Tone
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal aldolase level
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the skeletal musculature
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal lactate dehydrogenase activity
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Metatarsal Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Avascular necrosis of the capital femoral epiphysis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
External genital hypoplasia
|
phenotype |
|
Finding
|
29
|
2
|
0.100 |
None |
|
0 |
|
|
|
Legg-Calve-Perthes Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
9
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Recurrent seizure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
1
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Toe-walking gait
|
phenotype |
|
Finding
|
50
|
4
|
0.100 |
None |
|
0 |
|
|
|
Oculocerebrorenal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
42
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1998 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Gowers sign
|
phenotype |
|
Finding
|
54
|
8
|
0.100 |
None |
|
0 |
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Coxa valga
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
68
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dermatitis, Phototoxic
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
89
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscular stiffness
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
92
|
6
|
0.100 |
None |
|
0 |
|
|
|