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Browse result for Hiatt-Neu-Cooper neurodevelopmental syndrome
※ introduction Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) is characterized by global developmental delay with delayed walking or inability to walk and impaired intellectual development with poor or absent speech. Affected individuals have axial hypotonia and dysmorphic facies. Additional more variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities, such as dysplastic corpus callosum or polymicrogyria (summary by Hiatt et al., 2018).
Reference
OMIM: Hiatt-Neu-Cooper neurodevelopmental syndrome
Reference
OMIM: Hiatt-Neu-Cooper neurodevelopmental syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00985 | P11233 | 5898 | RALA | Ras-related protein Ral-A | Homo sapiens |
