Microcephaly, Primary Autosomal Recessive, 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
11
|
0.710 |
strong |
1.000 |
5 |
11
|
2005 |
2011 |
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
|
0.710 |
None |
1.000 |
1 |
|
2010 |
2010 |
SECKEL SYNDROME 4
|
disease |
|
Disease or Syndrome
|
1
|
13
|
0.600 |
None |
1.000 |
2 |
13
|
2006 |
2010 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.430 |
None |
1.000 |
3 |
4
|
2006 |
2014 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.420 |
strong |
1.000 |
3 |
|
2005 |
2010 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.310 |
strong |
1.000 |
2 |
1
|
2006 |
2011 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
85
|
187
|
0.200 |
None |
|
0 |
|
|
|
Russell-Silver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
104
|
12
|
0.200 |
None |
|
0 |
|
|
|
Aarskog syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
24
|
0.200 |
None |
|
0 |
|
|
|
Robinow Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
20
|
3
|
0.200 |
None |
|
0 |
|
|
|
Dubowitz syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
12
|
|
0.200 |
None |
|
0 |
|
|
|
Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.200 |
None |
|
0 |
|
|
|
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
11
|
0.200 |
None |
|
0 |
|
|
|
Congenital malformation syndromes associated with short stature
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
|
0.200 |
None |
|
0 |
|
|
|
Prader-Willi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
185
|
8
|
0.200 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Sleep Apnea, Obstructive
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
480
|
105
|
0.100 |
None |
0.941 |
34 |
|
2017 |
2020 |
Sleep Apnea Syndromes
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.100 |
None |
0.909 |
11 |
|
2017 |
2020 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.100 |
None |
|
0 |
|
|
|
11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.100 |
None |
|
0 |
|
|
|
Small cerebral cortex
|
phenotype |
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|