Rare Disease Library

Autosomal recessive proximal renal tubular acidosis

AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

Distal renal tubular acidosis with anemia

dRTA with anemia

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Proximal renal tubular acidosis

Renal tubular acidosis type 2 · pRTA

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome