Hypoplastic pubic rami
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Floppy Muscles
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Muscle Tone Atonic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Abnormal sternal ossification
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia cutis congenita of scalp
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Malrotation of small bowel
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Pitt-Rogers-Danks Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Gallbladder anomaly congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Periventricular cysts
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Pseudoepiphyses of the metacarpals
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperconvex fingernails
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short upper lip
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rib segmentation abnormalities
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Rieger eye malformation sequence
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital ectopic pupil
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent glabella
|
phenotype |
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Flaccid Muscle Tone
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Aplasia/Hypoplasia of the nipples
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Craniofacial asymmetry
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Persistent cavum septum pellucidum
|
phenotype |
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Calvarial skull defect
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Rieger syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
23
|
7
|
0.100 |
None |
|
0 |
|
|
|
Short hallux
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Stenosis of external auditory canal
|
disease |
|
Disease or Syndrome
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|