syndromic X-linked intellectual disability Nascimento type
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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXSN
related
X-linked intellectual disability-nail dystrophy-seizures syndrome
exact
intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive
exact
intellectual disability, X-linked syndromic, Nascimento-type
exact
intellectual disability, X-linked, syndromic, Nascimento type
related
mental retardation, X-linked, syndromic 30
related
mental retardation, X-linked, syndromic, Nascimento type
related
syndromic X-linked intellectual disability Nascimento type
exact
SPAC18B11.07c