Brooks-Wisniewski-Brown Syndrome

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Disease Ontology 12 DOID:0060829 OMIM 58 300612 ICD10 34 Q87.8 Orphanet 60 ORPHA3056

MedGen 43 C0796272 SNOMED-CT via HPO 70 128613002 14582003 162294008 16596007 203598005 229721007 237836003 246545002 246802000 246923005 249768009 253251006 267258002 271611007 274521009 275478007 276610007 278849000 281411007 29164008 313307000 385522000 391987005 400956000 40700009 418143002 44548000 5102002 52522001 55033002 563001 57048009 57190000 609225004 62415009 76976005 7890003 80093006 84757009 86854008 88565003 91175000 95515009 more UMLS 74 C0796272

NIH Rare Diseases : ⁵⁴ 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 developmental regression and low-set ears

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.