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Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
ORPHA:2278Classification level: Disorder
A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)
- Emergency guidelines
- Français (2018, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2021) - PNDS
: produced/endorsed by FSMR(s)
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