has modifier disease has basis in dysfunction of SLC4A4 Autosomal recessive inheritance autosomal recessive disease proximal renal tubular acidosis autosomal recessive proximal renal tubular acidosis AR pRTA Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. MESH:C567038 MONDO:0011422 OMIM:604278 Orphanet:93607 RTA, proximal, autosomal recessive UMLS:C1970309 proximal renal tubular acidosis with ocular abnormalities and intellectual disability proximal renal tubular acidosis, autosomal recessive renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability renal tubular acidosis, proximal, with ocular abnormalities and mental retardation