has material basis in germline mutation in UBE2A syndromic X-linked intellectual disability Nascimento type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_syndromic_nascimento_type https://www.malacards.org/card/syndromic_x_linked_intellectual_disability_nascimento_type UMLS:C3275464 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. GARD:0017005 Orphanet:163956 X-linked intellectual disability-nail dystrophy-seizures syndrome intellectual disability, X-linked, syndromic 30 mental retardation, X-linked, syndromic 30 X-linked intellectual disability, Nascimento type DOID:0060820 intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive intellectual disability, X-linked syndromic, Nascimento-type MONDO:0010461 intellectual disability, X-linked, syndromic, Nascimento type mental retardation, X-linked, syndromic, Nascimento type MEDGEN:477095 MRXSN syndromic X-linked intellectual disability Nascimento type OMIM:300860 X-linked syndromic intellectual disability