Holoprosencephaly 14
Summary
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
- 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
- Median cleft upper lip
Median cleft upper lip
- MedGen UID: 342454
- Concept ID: C1850256
- Finding: Congenital Abnormality
Abnormality of head or neck
- Proboscis
Proboscis
- MedGen UID: 1684306
- Concept ID: C5194070
- Finding: Congenital Abnormality
Abnormality of head or neck
- Anteverted nares
- Abnormality of the cardiovascular system
- Aortic valve atresia
Aortic valve atresia
- MedGen UID: 451016
- Concept ID: C0265843
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Double outlet right ventricle
Double outlet right ventricle
- MedGen UID: 41649
- Concept ID: C0013069
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Aortic valve atresia
- Abnormality of the eye
- Holoprosencephaly 1
Holoprosencephaly 1
- MedGen UID: 78617
- Concept ID: C0266667
- Finding: Congenital Abnormality
Abnormality of the eye
- Holoprosencephaly 1
- Abnormality of the musculoskeletal system
- Dandy-Walker syndrome
Dandy-Walker syndrome
- MedGen UID: 4150
- Concept ID: C0010964
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Enlarged cisterna magna
Enlarged cisterna magna
- MedGen UID: 344031
- Concept ID: C1853377
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Dandy-Walker syndrome
- Abnormality of the nervous system
- Absent septum pellucidum
Absent septum pellucidum
- MedGen UID: 96561
- Concept ID: C0431371
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Alobar holoprosencephaly
Alobar holoprosencephaly
- MedGen UID: 140909
- Concept ID: C0431363
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Aqueductal stenosis
Aqueductal stenosis
- MedGen UID: 75614
- Concept ID: C0266476
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- EEG abnormality
EEG abnormality
- MedGen UID: 56235
- Concept ID: C0151611
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- 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
- Interhemispheric cyst
Interhemispheric cyst
- MedGen UID: 339924
- Concept ID: C1853188
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Partial absence of cerebellar vermis
Partial absence of cerebellar vermis
- MedGen UID: 871190
- Concept ID: C4025667
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Partial agenesis of the corpus callosum
Partial agenesis of the corpus callosum
- MedGen UID: 98127
- Concept ID: C0431368
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Periventricular heterotopia
Periventricular heterotopia
- MedGen UID: 1766888
- Concept ID: C5399973
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Posterior fossa cyst
Posterior fossa cyst
- MedGen UID: 341753
- Concept ID: C1857353
- Finding: Finding
Abnormality of the nervous system
- Subependymal cysts
Subependymal cysts
- MedGen UID: 318876
- Concept ID: C1833431
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Absent septum pellucidum
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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