HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
|
disease |
|
Disease or Syndrome
|
1
|
14
|
0.600 |
strong |
1.000 |
4 |
14
|
2014 |
2019 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Agenesis of maxillary lateral incisor
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of head or neck
|
phenotype |
|
Anatomical Abnormality
|
6
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hyperphosphatasia with Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
7
|
8
|
0.530 |
None |
1.000 |
3 |
|
2014 |
2018 |
Abnormal parietal bone morphology
|
phenotype |
|
Anatomical Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Small head
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased head circumference
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Shallow anterior chamber of eye
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Infantile axial hypotonia
|
phenotype |
|
Finding
|
17
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Broad philtrum
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bruxism
|
phenotype |
Stomatognathic Diseases
|
Mental or Behavioral Dysfunction
|
24
|
9
|
0.100 |
None |
|
0 |
|
|
|
Single umbilical artery
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cerebral hypomyelination
|
phenotype |
|
Finding
|
29
|
6
|
0.100 |
None |
|
0 |
|
|
|
EEG with polyspike wave complexes
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Involuntary Movements
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
37
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thickened helices
|
phenotype |
|
Finding
|
37
|
3
|
0.100 |
None |
|
0 |
|
|
|
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Gastrostomy tube feeding in infancy
|
phenotype |
|
Finding
|
38
|
19
|
0.100 |
None |
|
0 |
|
|
|
Shortening of all distal phalanges of the fingers
|
phenotype |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Telangiectasis
|
disease |
Cardiovascular Diseases
|
Finding
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|