Microcephalic primordial dwarfism Alazami type
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
6
|
0.750 |
strong |
1.000 |
6 |
6
|
2012 |
2020 |
Abnormal eating behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Stereotypical hand wringing
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
8
|
5
|
0.100 |
None |
|
0 |
|
|
|
Interleukin 16 Measurement
|
phenotype |
|
Laboratory Procedure
|
9
|
12
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Mild microcephaly
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
|
0 |
|
|
|
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.320 |
strong |
1.000 |
3 |
|
2012 |
2016 |
Sparse eyebrow
|
phenotype |
|
Finding
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Narrow palpebral fissure
|
phenotype |
|
Finding
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Slender long bone
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Familial Nonmedullary Thyroid Cancer
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
66
|
2
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Widely spaced teeth
|
phenotype |
|
Finding
|
71
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cutis marmorata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
80
|
9
|
0.100 |
None |
|
0 |
|
|
|
Wide nose
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short palpebral fissure
|
phenotype |
|
Finding
|
91
|
16
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Postnatal growth retardation
|
phenotype |
|
Finding
|
121
|
11
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
|
|
|
Sleep Apnea Syndromes
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|