Cerebellar ataxia-hypogonadism syndrome
- Synonyms
- Cerebellar ataxia and hypogonadotropic hypogonadism; Cerebellar ataxia hypogonadotropic hypogonadism; Gordon Holmes syndrome; LHRH DEFICIENCY AND ATAXIA; Luteinizing hormone releasing hormone, deficiency of with ataxia
- Modes of inheritance
- Autosomal 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:
- Matthis Synofzik
- Robert B Hufnagel
- Stephan Züchner
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Clinical features
Help- Abnormality of the endocrine system
- Absence of pubertal development
Absence of pubertal development
- MedGen UID: 375841
- Concept ID: C1846228
- Finding: Finding
Abnormality of the endocrine system
- Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
- MedGen UID: 82883
- Concept ID: C0271623
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Absence of pubertal development
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- Oligomenorrhea
Oligomenorrhea
- MedGen UID: 18159
- Concept ID: C0028949
- Finding: Pathologic Function
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Secondary amenorrhea
Secondary amenorrhea
- MedGen UID: 115919
- Concept ID: C0232940
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Oligomenorrhea
- 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
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Chorea
Chorea
- MedGen UID: 3420
- Concept ID: C0008489
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- 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
- Cerebellar ataxia
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