X-linked sideroblastic anemia with ataxia
- Synonyms
- Anemia sideroblastic and spinocerebellar ataxia; Pagon Bird Detter syndrome; SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA; Sideroblastic anemia with spinocerebellar ataxia; X-Linked Sideroblastic Anemia and Ataxia
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anisocytosis
Anisocytosis
- MedGen UID: 66371
- Concept ID: C0221278
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Bone marrow hypercellularity
Bone marrow hypercellularity
- MedGen UID: 605828
- Concept ID: C0427703
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Erythroid hyperplasia
Erythroid hyperplasia
- MedGen UID: 4536
- Concept ID: C0014800
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Howell-Jolly bodies
Howell-Jolly bodies
- MedGen UID: 5644
- Concept ID: C0020058
- Finding: Acquired Abnormality
Abnormality of blood and blood-forming tissues
- Hypochromic microcytic anemia
Hypochromic microcytic anemia
- MedGen UID: 124413
- Concept ID: C0271901
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Pappenheimer bodies
Pappenheimer bodies
- MedGen UID: 137696
- Concept ID: C0333814
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Poikilocytosis
Poikilocytosis
- MedGen UID: 67451
- Concept ID: C0221281
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Sideroblastic anemia
Sideroblastic anemia
- MedGen UID: 8067
- Concept ID: C0002896
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Target cells
Target cells
- MedGen UID: 526211
- Concept ID: C0221284
- Finding: Cell
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of metabolism/homeostasis
- Increased erythrocyte protoporphyrin concentration
Increased erythrocyte protoporphyrin concentration
- MedGen UID: 868608
- Concept ID: C4023007
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased erythrocyte protoporphyrin concentration
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Ophthalmoplegia
Ophthalmoplegia
- MedGen UID: 45205
- Concept ID: C0029089
- Finding: Sign or Symptom
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Organic aciduria
Organic aciduria
- MedGen UID: 66037
- Concept ID: C0241775
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the integument
- Pallor
Pallor
- MedGen UID: 10547
- Concept ID: C0030232
- Finding: Finding
Abnormality of the integument
- Pallor
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Abducens nerve palsy
Abducens nerve palsy
- MedGen UID: 1645218
- Concept ID: C4551519
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity
- MedGen UID: 868351
- Concept ID: C4022745
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Abnormal brainstem morphology
Abnormal brainstem morphology
- MedGen UID: 342543
- Concept ID: C1850601
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Abnormality of movement
Abnormality of movement
- MedGen UID: 10113
- Concept ID: C0026650
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Basal ganglia gliosis
Basal ganglia gliosis
- MedGen UID: 416417
- Concept ID: C2750915
- Finding: Finding
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 atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- 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
- Clonus
Clonus
- MedGen UID: 40341
- Concept ID: C0009024
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cognitive impairment
Cognitive impairment
- MedGen UID: 90932
- Concept ID: C0338656
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysdiadochokinesis
Dysdiadochokinesis
- MedGen UID: 115975
- Concept ID: C0234979
- Finding: Sign or Symptom
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- 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
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Intention tremor
Intention tremor
- MedGen UID: 1642960
- Concept ID: C4551520
- Finding: Sign or Symptom
Abnormality of the nervous system
- Interictal EEG abnormality
Interictal EEG abnormality
- MedGen UID: 1377364
- Concept ID: C4476738
- Finding: Finding
Abnormality of the nervous system
- Language disorder
Language disorder
- MedGen UID: 44069
- Concept ID: C0023015
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia
- MedGen UID: 335079
- Concept ID: C1845029
- Finding: Finding
Abnormality of the nervous system
- Positive Romberg sign
Positive Romberg sign
- MedGen UID: 66017
- Concept ID: C0240914
- Finding: Finding
Abnormality of the nervous system
- Postural instability
Postural instability
- MedGen UID: 334529
- Concept ID: C1843921
- Finding: Finding
Abnormality of the nervous system
- Reduced tendon reflexes
Reduced tendon reflexes
- MedGen UID: 356648
- Concept ID: C1866934
- Finding: Finding
Abnormality of the nervous system
- Schizophrenia
Schizophrenia
- MedGen UID: 48574
- Concept ID: C0036341
- 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
- Abducens nerve palsy
- Abnormality of the voice
- Dysphonia
Dysphonia
- MedGen UID: 282893
- Concept ID: C1527344
- Finding: Mental or Behavioral Dysfunction
Abnormality of the voice
- Dysphonia
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Weight loss
Weight loss
- MedGen UID: 853198
- Concept ID: C1262477
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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