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Browse result for Autosomal recessive intellectual disability
※ introduction Ichthyosis-intellectual disability-dwarfism-renal impairment is a very rare autosomal recessive ichthyotic genetic disorder which consists of congenital ichthyosis, intellectual disabilities, dwarfism/short stature and renal impairment. This condition has been described only in four members of an Iranian family and was discovered in the summer of 1975.
Reference
Wiki: Autosomal recessive intellectual disability
Reference
Wiki: Autosomal recessive intellectual disability
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01279 | Q13454 | 7991 | TUSC3 | Tumor suppressor candidate 3 | Homo sapiens |
