Holoprosencephaly 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Clinical features
Help- Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bilateral cleft lip
Bilateral cleft lip
- MedGen UID: 451046
- Concept ID: C0392005
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bilateral cleft palate
Bilateral cleft palate
- MedGen UID: 765998
- Concept ID: C3553084
- Finding: Finding
Abnormality of head or neck
- Median cleft palate
Median cleft palate
- MedGen UID: 340670
- Concept ID: C1850968
- Finding: Congenital Abnormality
Abnormality of head or neck
- Median cleft upper lip
Median cleft upper lip
- MedGen UID: 342454
- Concept ID: C1850256
- Finding: Congenital Abnormality
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
- 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
- Submucous cleft hard palate
Submucous cleft hard palate
- MedGen UID: 98472
- Concept ID: C0432103
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bifid uvula
- Abnormality of the cardiovascular system
- Single ventricle
Single ventricle
- MedGen UID: 56289
- Concept ID: C0152424
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Single ventricle
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the endocrine system
- Adrenal hypoplasia
Adrenal hypoplasia
- MedGen UID: 337539
- Concept ID: C1846223
- Finding: Pathologic Function
Abnormality of the endocrine system
- Diabetes insipidus
Diabetes insipidus
- MedGen UID: 8349
- Concept ID: C0011848
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Adrenal hypoplasia
- Abnormality of the eye
- Chorioretinal coloboma
Chorioretinal coloboma
- MedGen UID: 66820
- Concept ID: C0240896
- Finding: Congenital Abnormality
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
- Iris coloboma
Iris coloboma
- MedGen UID: 116097
- Concept ID: C0240063
- Finding: Anatomical Abnormality
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Persistent hyperplastic primary vitreous
Persistent hyperplastic primary vitreous
- MedGen UID: 120583
- Concept ID: C0266568
- Finding: Congenital Abnormality
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Chorioretinal coloboma
- Abnormality of the musculoskeletal system
- Absent nasal septal cartilage
Absent nasal septal cartilage
- MedGen UID: 867277
- Concept ID: C4021638
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Aplasia of the nasal bone
Aplasia of the nasal bone
- MedGen UID: 869213
- Concept ID: C4023635
- Finding: Finding
Abnormality of the musculoskeletal system
- Aplasia of the premaxilla
Aplasia of the premaxilla
- MedGen UID: 869286
- Concept ID: C4023712
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
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
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Absent nasal septal cartilage
- Abnormality of the nervous system
- Alobar holoprosencephaly
Alobar holoprosencephaly
- MedGen UID: 140909
- Concept ID: C0431363
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Anterior pituitary agenesis
Anterior pituitary agenesis
- MedGen UID: 866893
- Concept ID: C4021249
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
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
- 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
- Alobar holoprosencephaly
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