Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Orpha code: 2278OMIM code: 242530

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Passwell-Goodman-Siprkowski syndrome
Zespół Passwella, Goodmana i Siprkowskiego
ORPHA code
2278
OMIM code
242530
ICD10 code
-
ICD11 code
-

No additional description.

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