Dyskeratosis congenita, autosomal recessive 6
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:
- Sharon A Savage
- Marena R Niewisch
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Clinical features
Help- Abnormal cellular phenotype
- Short telomere length
Short telomere length
- MedGen UID: 1627435
- Concept ID: C4531138
- Finding: Anatomical Abnormality
Abnormal cellular phenotype
- Short telomere length
- Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
Bone marrow hypocellularity
- MedGen UID: 383749
- Concept ID: C1855710
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
- Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Oral mucosa leukoplakia
Oral mucosa leukoplakia
- MedGen UID: 9738
- Concept ID: C0023532
- Finding: Neoplastic Process
Abnormality of head or neck
- Premature loss of teeth
Premature loss of teeth
- MedGen UID: 66678
- Concept ID: C0232513
- Finding: Finding
Abnormality of head or neck
- Carious teeth
- Abnormality of the eye
- Epiphora
Epiphora
- MedGen UID: 57518
- Concept ID: C0152227
- Finding: Disease or Syndrome
Abnormality of the eye
- Epiphora
- Abnormality of the integument
- Abnormality of skin pigmentation
Abnormality of skin pigmentation
- MedGen UID: 224697
- Concept ID: C1260926
- Finding: Finding
Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Abnormality of skin pigmentation
- 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 ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
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
- Cerebellar ataxia
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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