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syndromic X-linked intellectual disability Nascimento type

Go to external page http://purl.obolibrary.org/obo/MONDO_0010461

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. [ Orphanet:163956 ]

Synonyms: mental retardation, X-linked syndromic, Nascimento-type intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive X-linked intellectual disability-nail dystrophy-seizures syndrome intellectual disability, X-linked syndromic, Nascimento-type syndromic X-linked intellectual disability Nascimento type

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/DOID_0060820

https://omim.org/entry/300860

http://www.orpha.net/ORDO/Orphanet_163956

http://linkedlifedata.com/resource/umls/id/C3275464

has related synonym

intellectual disability, X-linked, syndromic 30

X-linked intellectual disability, Nascimento type

intellectual disability, X-linked, syndromic, Nascimento type

mental retardation, X-linked, syndromic, Nascimento type

MRXSN

mental retardation, X-linked, syndromic 30

id

MONDO:0010461

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010461

Term relations