| Disease ID | Source | Name | Description |
| 617481 | OMIM | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) | An autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. The disease is caused by variants affecting the gene represented in this entry. |