" /> Congenital hemidysplasia with ichthyosiform erythroderma and limb defects - CISMeF





Preferred Label : Congenital hemidysplasia with ichthyosiform erythroderma and limb defects;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs; Child syndrome;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutations in the NAD(P)H steroid dehydrogenase-like protein gene (NSDHL, 300275.0001); Caused by mutations in the emopamil-binding protein gene (EBP, 300205.0006);

Laboratory abnormalities : Elevated 8-dehydrocholesterol; Elevated 8(9)-cholestenol;

Prefixed ID : #308050;

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27/07/2025


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