X-linked complicated corpus callosum dysgenesis
- Synonyms
- Corpus callosum, partial agenesis of, X-linked
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
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:
- Connie Stumpel
- Yvonne J Vos
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (42 available)
Clinical features
Help- Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- Finding: Congenital Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Dislocated radial head
- Abnormality of the digestive system
- Aganglionic megacolon
Aganglionic megacolon
- MedGen UID: 5559
- Concept ID: C0019569
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Aganglionic megacolon
- Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- 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
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
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
- Inferior cerebellar vermis hypoplasia
Inferior cerebellar vermis hypoplasia
- MedGen UID: 343328
- Concept ID: C1855350
- 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
- Interhemispheric cyst
Interhemispheric cyst
- MedGen UID: 339924
- Concept ID: C1853188
- Finding: Disease or Syndrome
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
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
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