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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01279Q134547991
TUSC3
Tumor suppressor candidate 3
Homo sapiens