Brooks-Wisniewski-Brown Syndrome

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OMIM 57 300612 Disease Ontology 12 DOID:0060829 ICD10 33 Q87.8 Orphanet 59 ORPHA3056

MedGen 42 C0796272 SNOMED-CT via HPO 69 14582003 271611007 253251006 95515009 275478007 246923005 80093006 400956000 57190000 16596007 563001 76976005 162294008 229721007 29164008 62415009 44548000 391987005 249768009 128613002 246545002 313307000 84757009 91175000 281411007 5102002 86854008 203598005 385522000 55033002 57048009 7890003 88565003 267258002 276610007 278849000 418143002 52522001 274521009 609225004 237836003 40700009 246802000 more UMLS 73 C0796272

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3056Disease definitionX-linkedintellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.Visit the Orphanet disease page for more resources.

MalaCards based summary : Brooks-Wisniewski-Brown Syndrome, also known as x-linked intellectual disability, brooks type, is related to brown syndrome, and has symptoms including seizures, muscle weakness and muscle spasticity. An important gene associated with Brooks-Wisniewski-Brown Syndrome is MRXSBWB (Brooks-Wisniewski-Brown Syndrome). Affiliated tissues include eye, and related phenotypes are low-set ears and pectus excavatum

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has material basis in variation on the X chromosome.

Description from OMIM: 300612

Clinical features from OMIM:

300612

Search Clinical Trials , NIH Clinical Center for Brooks-Wisniewski-Brown Syndrome

Search GEO for disease gene expression data for Brooks-Wisniewski-Brown Syndrome.