Here in, we reported a case presented with ichthyosis and intellectual disability with MEDNIK syndrome that confirmed by mutation analysis in a Turkish child. [ncbi.nlm.nih.gov]

Note hypopigmentation in relation to ethnic ( a – d, of Turkish origin) and familial ( e – f ) background. Coarsening of facial features with full lips and macroglossia resembling (lysosomal) storage disorders is noted in some older children ( g ). [ojrd.biomedcentral.com]

The X-linked, lethal genetic disorder of the ATP7A gene causes Menkes disease, the ATP7A gene is located on the long arm of the X chromosome between at position 13.3. [wikivisually.com]

UniProtKB/Swiss-Prot : 76 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural [malacards.org]

MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia. [ncbi.nlm.nih.gov]

Caused by a mutation in the AP1S1 gene, this syndrome is characterized by mental retardation, enteropathy, deafness, and peripheral neuropathy, ichthyosis, and keratodermia (MEDNIK). [news-medical.net]

neuropathy, ichthyosis, and keratoderma. [zfin.org]

Copper Deficiency and Microcytic Anemia Resulting from Prolonged Ingestion of Over--the--Counter Zinc. [connection.ebscohost.com]