Heterotopia, periventricular, X-linked dominant
- Synonyms
- HETEROTOPIA, PERIVENTRICULAR, 1; Heterotopia familial nodular; Nodular heterotopia bilateral periventricular; PERIVENTRICULAR NODULAR HETEROTOPIA 1; PERIVENTRICULAR NODULAR HETEROTOPIA 4; X-linked periventricular heterotopia
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ming Hui Chen
- Christopher A Walsh
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (99 available)
Genes See tests for all associated and related genes
Also known as: ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, FLNA
Summary: filamin A
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormality of the coagulation cascade
Abnormality of the coagulation cascade
- MedGen UID: 604
- Concept ID: C0005779
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Bone marrow maturation arrest
Bone marrow maturation arrest
- MedGen UID: 549798
- Concept ID: C0302173
- Finding: Cell or Molecular Dysfunction
Abnormality of blood and blood-forming tissues
- Abnormality of the coagulation cascade
- Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Short finger
Short finger
- MedGen UID: 334977
- Concept ID: C1844548
- Finding: Anatomical Abnormality
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly
- Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Cerebral hemorrhage
Cerebral hemorrhage
- MedGen UID: 423648
- Concept ID: C2937358
- Finding: Pathologic Function
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
- Stroke disorder
Stroke disorder
- MedGen UID: 52522
- Concept ID: C0038454
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Bicuspid aortic valve
- Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
- Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
- Abnormality of the nervous system
- Abnormality of neuronal migration
Abnormality of neuronal migration
- MedGen UID: 324748
- Concept ID: C1837249
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- 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
- Thin corpus callosum
Thin corpus callosum
- MedGen UID: 1785336
- Concept ID: C5441562
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Abnormality of neuronal migration
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