Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

MONDO:0016574

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.

Also known as: Westerhof-Beemer-Cormane syndrome, Westerhof Beemer Cormane syndrome, congenital hypomelanotic and hypermelanotic macules, hereditary congenital hypopigmented and hyperpigmented macules, macules hereditary congenital hypopigmented and hyperpigmented, macules, hereditary congenital hypopigmented and hyperpigmented

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