Renal tubular acidosis with progressive nerve deafness
- Synonyms
- Distal Renal Tubular Acidosis with Progressive Sensorineural Deafness; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS; RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; RTA WITH PROGRESSIVE NERVE DEAFNESS
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- R Todd Alexander
- Linda Law
- Helena Gil-Peña
- view full author information
Available tests
Clinical tests (55 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Renal tubular acidosis
Renal tubular acidosis
- MedGen UID: 90
- Concept ID: C0001126
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Renal tubular acidosis
- Abnormality of the genitourinary system
- Nephrolithiasis
Nephrolithiasis
- MedGen UID: 98227
- Concept ID: C0392525
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrolithiasis
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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