Holoprosencephaly 5
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Deep philtrum
Deep philtrum
- MedGen UID: 374311
- Concept ID: C1839797
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Orofacial cleft
Orofacial cleft
- MedGen UID: 472000
- Concept ID: C3266076
- Finding: Congenital Abnormality
Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- 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
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
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
- Hypertelorism
- Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Synophrys
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Trigonocephaly
Trigonocephaly
- MedGen UID: 82713
- Concept ID: C0265535
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Alobar holoprosencephaly
Alobar holoprosencephaly
- MedGen UID: 140909
- Concept ID: C0431363
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Arachnoid cyst
Arachnoid cyst
- MedGen UID: 86860
- Concept ID: C0078981
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
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
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
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
- Lateral ventricle dilatation
Lateral ventricle dilatation
- MedGen UID: 383904
- Concept ID: C1856409
- Finding: Pathologic Function
Abnormality of the nervous system
- Lobar holoprosencephaly
Lobar holoprosencephaly
- MedGen UID: 96559
- Concept ID: C0431362
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Persistent asymmetrical tonic neck reflex
Persistent asymmetrical tonic neck reflex
- MedGen UID: 1696755
- Concept ID: C5209285
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Semilobar holoprosencephaly
Semilobar holoprosencephaly
- MedGen UID: 199694
- Concept ID: C0751617
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Syntelencephaly
Syntelencephaly
- MedGen UID: 1708682
- Concept ID: C5396362
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Alobar holoprosencephaly
- Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.