Congenital hemidysplasia with ichthyosiform erythroderma and limb defects - CISMeF
Congenital hemidysplasia with ichthyosiform erythroderma and limb defectsOMIM Phenotype
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);