| Disease ID | Source | Name | Description |
| 612718 | OMIM | Cerebral creatine deficiency syndrome 3 (CCDS3) | An autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. The disease is caused by variants affecting the gene represented in this entry. |
| 134600 | OMIM | Fanconi renotubular syndrome 1 (FRTS1) | A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |