syndromic X-linked intellectual disability Nascimento type

Rare Disease

MONDO:0010461

Also Known As

X-linked intellectual disability-nail dystrophy-seizures syndromeintellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessiveintellectual disability, X-linked syndromic, Nascimento-typemental retardation, X-linked syndromic, Nascimento-typesyndromic X-linked intellectual disability Nascimento typeMRXSNX-linked intellectual disability, Nascimento typeintellectual disability, X-linked, syndromic 30intellectual disability, X-linked, syndromic, Nascimento typemental retardation, X-linked, syndromic 30mental retardation, X-linked, syndromic, Nascimento type

Definition

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.