Holoprosencephaly 3
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (49 available)
Clinical features
Help- Abnormality of head or neck
- Abnormality of the nose
Abnormality of the nose
- MedGen UID: 539457
- Concept ID: C0265736
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft lip
Cleft lip
- MedGen UID: 1370297
- Concept ID: C4321245
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Proboscis
Proboscis
- MedGen UID: 1684306
- Concept ID: C5194070
- Finding: Congenital Abnormality
Abnormality of head or neck
- Short columella
Short columella
- MedGen UID: 341783
- Concept ID: C1857479
- Finding: Finding
Abnormality of head or neck
- Single naris
Single naris
- MedGen UID: 146897
- Concept ID: C0685682
- Finding: Congenital Abnormality
Abnormality of head or neck
- Solitary median maxillary central incisor syndrome
Solitary median maxillary central incisor syndrome
- MedGen UID: 326686
- Concept ID: C1840235
- Finding: Congenital Abnormality
Abnormality of head or neck
- Abnormality of the nose
- Abnormality of the endocrine system
- Central diabetes insipidus
Central diabetes insipidus
- MedGen UID: 146919
- Concept ID: C0687720
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Central diabetes insipidus
- Abnormality of the eye
- Holoprosencephaly 1
Holoprosencephaly 1
- MedGen UID: 78617
- Concept ID: C0266667
- Finding: Congenital Abnormality
Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Holoprosencephaly 1
- Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Holoprosencephaly sequence
Holoprosencephaly sequence
- MedGen UID: 38214
- Concept ID: C0079541
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
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