Urocanate hydratase deficiency
- Synonyms
- Urocanase deficiency; Urocanic aciduria
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (11 available)
Clinical features
Help- 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
- Urocanate hydratase deficiency
Urocanate hydratase deficiency
- MedGen UID: 120644
- Concept ID: C0268514
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Urocanate hydratase deficiency
- Abnormality of the nervous system
- Action tremor
Action tremor
- MedGen UID: 65875
- Concept ID: C0234376
- Finding: Sign or Symptom
Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- 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
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability, moderate
Intellectual disability, moderate
- MedGen UID: 7680
- Concept ID: C0026351
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Action tremor
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.