Oculogastrointestinal-neurodevelopmental syndrome
Summary
Clinical features
Help- Abnormality of head or neck
- Low hanging columella
Low hanging columella
- MedGen UID: 344656
- Concept ID: C1856119
- Finding: Finding
Abnormality of head or neck
- Low hanging columella
- Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
- Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Imperforate anus
- Abnormality of the eye
- Bilateral microphthalmos
Bilateral microphthalmos
- MedGen UID: 334420
- Concept ID: C1843496
- Finding: Congenital Abnormality
Abnormality of the eye
- Congenital ocular coloboma
Congenital ocular coloboma
- MedGen UID: 1046
- Concept ID: C0009363
- Finding: Congenital Abnormality
Abnormality of the eye
- Unilateral microphthalmos
Unilateral microphthalmos
- MedGen UID: 768664
- Concept ID: C3640024
- Finding: Disease or Syndrome
Abnormality of the eye
- Unilateral ptosis
Unilateral ptosis
- MedGen UID: 401085
- Concept ID: C1866806
- Finding: Finding
Abnormality of the eye
- Bilateral microphthalmos
- Abnormality of the genitourinary system
- Horseshoe kidney
Horseshoe kidney
- MedGen UID: 65140
- Concept ID: C0221353
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Vaginal fistula
Vaginal fistula
- MedGen UID: 21812
- Concept ID: C0042253
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Horseshoe kidney
- Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Sacral dimple
Sacral dimple
- MedGen UID: 98428
- Concept ID: C0426848
- Finding: Finding
Abnormality of the integument
- Hirsutism
- Abnormality of the musculoskeletal system
- Hemivertebrae
Hemivertebrae
- MedGen UID: 82720
- Concept ID: C0265677
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Hemivertebrae
- Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Autistic behavior
- Abnormality of the respiratory system
- Laryngeal cleft
Laryngeal cleft
- MedGen UID: 327075
- Concept ID: C1840311
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Laryngeal cleft
- Abnormality of the voice
- Dysphonia
Dysphonia
- MedGen UID: 282893
- Concept ID: C1527344
- Finding: Mental or Behavioral Dysfunction
Abnormality of the voice
- Dysphonia
- Ear malformation
- Simple ear
Simple ear
- MedGen UID: 140913
- Concept ID: C0431483
- Finding: Congenital Abnormality
Ear malformation
- Simple ear
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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