| Disease ID | Source | Name | Description |
| 241410 | OMIM | Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) | An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. |
| 244460 | OMIM | Kenny-Caffey syndrome 1 (KCS1) | An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. The disease is caused by variants affecting the gene represented in this entry. |
| 617207 | OMIM | Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) | An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry. |