| Disease ID | Source | Name | Description |
| 309510 | OMIM | Partington syndrome (PRTS) | Characterized by mental retardation, episodic dystonic hand movements, and dysarthria. The disease is caused by variants affecting the gene represented in this entry. |
| 300004 | OMIM | Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) | An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. The disease is caused by variants affecting the gene represented in this entry. |
| 300215 | OMIM | Lissencephaly, X-linked 2 (LISX2) | A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. The disease is caused by variants affecting the gene represented in this entry. |
| 300419 | OMIM | Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry. |
| 308350 | OMIM | Developmental and epileptic encephalopathy 1 (DEE1) | A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. The disease is caused by variants affecting the gene represented in this entry. |