Fraser syndrome 2
- Synonyms
- FREM2-Related Fraser Syndrome
Summary
Available tests
Clinical tests (24 available)
Clinical features
Help- Abnormality of head or neck
- Cryptophthalmia
Cryptophthalmia
- MedGen UID: 81386
- Concept ID: C0311249
- Finding: Congenital Abnormality
Abnormality of head or neck
- Low anterior hairline
Low anterior hairline
- MedGen UID: 331280
- Concept ID: C1842366
- Finding: Finding
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Underdeveloped nasal alae
Underdeveloped nasal alae
- MedGen UID: 322332
- Concept ID: C1834055
- Finding: Congenital Abnormality
Abnormality of head or neck
- Wide nose
Wide nose
- MedGen UID: 140869
- Concept ID: C0426421
- Finding: Finding
Abnormality of head or neck
- Cryptophthalmia
- Abnormality of limbs
- Cutaneous syndactyly
Cutaneous syndactyly
- MedGen UID: 396250
- Concept ID: C1861921
- Finding: Congenital Abnormality
Abnormality of limbs
- Cutaneous syndactyly
- Abnormality of prenatal development or birth
- Oligohydramnios
Oligohydramnios
- MedGen UID: 86974
- Concept ID: C0079924
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Oligohydramnios
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Intestinal malrotation
Intestinal malrotation
- MedGen UID: 113153
- Concept ID: C0221210
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Rectal atresia
Rectal atresia
- MedGen UID: 473199
- Concept ID: C0549173
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
- Abnormality of the genitourinary system
- Ambiguous genitalia
Ambiguous genitalia
- MedGen UID: 78596
- Concept ID: C0266362
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Aplasia of the bladder
Aplasia of the bladder
- MedGen UID: 869385
- Concept ID: C4023812
- Finding: Finding
Abnormality of the genitourinary system
- Bilateral renal agenesis
Bilateral renal agenesis
- MedGen UID: 296299
- Concept ID: C1609433
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal agenesis
Renal agenesis
- MedGen UID: 154237
- Concept ID: C0542519
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Unilateral renal agenesis
Unilateral renal agenesis
- MedGen UID: 75607
- Concept ID: C0266294
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Ureteral agenesis
Ureteral agenesis
- MedGen UID: 868560
- Concept ID: C4022959
- Finding: Finding
Abnormality of the genitourinary system
- Ambiguous genitalia
- Abnormality of the immune system
- Hypoplasia of the thymus
Hypoplasia of the thymus
- MedGen UID: 146347
- Concept ID: C0685891
- Finding: Congenital Abnormality
Abnormality of the immune system
- Hypoplasia of the thymus
- Abnormality of the musculoskeletal system
- Short thorax
Short thorax
- MedGen UID: 140876
- Concept ID: C0426789
- Finding: Finding
Abnormality of the musculoskeletal system
- Short thorax
- Abnormality of the respiratory system
- Hypoplasia of the epiglottis
Hypoplasia of the epiglottis
- MedGen UID: 235600
- Concept ID: C1396772
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Hypoplasia of the epiglottis
- Ear malformation
- Atresia of the external auditory canal
Atresia of the external auditory canal
- MedGen UID: 78613
- Concept ID: C0266597
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Atresia of the external auditory canal
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