Holoprosencephaly 13, X-linked
Summary
Available tests
Clinical tests (7 available)
Clinical features
Help- Abnormality of head or neck
- Aplasia of the nose
Aplasia of the nose
- MedGen UID: 120555
- Concept ID: C0265740
- Finding: Congenital 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 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
- 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
- Aplasia of the nose
- 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
- Hypoplastic left heart syndrome
Hypoplastic left heart syndrome
- MedGen UID: 57746
- Concept ID: C0152101
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent foramen ovale
Patent foramen ovale
- MedGen UID: 8891
- Concept ID: C0016522
- 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
- Double outlet right ventricle
- Abnormality of the digestive system
- Duodenal atresia
Duodenal atresia
- MedGen UID: 75602
- Concept ID: C0266174
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Duodenal atresia
- Abnormality of the eye
- Holoprosencephaly 1
Holoprosencephaly 1
- MedGen UID: 78617
- Concept ID: C0266667
- Finding: Congenital Abnormality
Abnormality of the eye
- Optic nerve hypoplasia
Optic nerve hypoplasia
- MedGen UID: 137901
- Concept ID: C0338502
- Finding: Disease or Syndrome
Abnormality of the eye
- Holoprosencephaly 1
- Abnormality of the musculoskeletal system
- Butterfly vertebrae
Butterfly vertebrae
- MedGen UID: 1744309
- Concept ID: C5438458
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Thoracic hemivertebrae
Thoracic hemivertebrae
- MedGen UID: 98142
- Concept ID: C0432152
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Vertebral clefting
Vertebral clefting
- MedGen UID: 344586
- Concept ID: C1855828
- Finding: Finding
Abnormality of the musculoskeletal system
- Butterfly vertebrae
- Abnormality of the nervous system
- Alobar holoprosencephaly
Alobar holoprosencephaly
- MedGen UID: 140909
- Concept ID: C0431363
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Colpocephaly
Colpocephaly
- MedGen UID: 98131
- Concept ID: C0431384
- 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
- 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
- Septo-optic dysplasia sequence
Septo-optic dysplasia sequence
- MedGen UID: 90926
- Concept ID: C0338503
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Alobar holoprosencephaly
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
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