MCID: BRK011
MIFTS: 25
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Brooks-Wisniewski-Brown Syndrome
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Brooks-Wisniewski-Brown Syndrome:
Characteristics:Orphanet epidemiological data:59
x-linked intellectual disability, brooks type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); HPO:32Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
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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
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Diseases related to Brooks-Wisniewski-Brown Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300612Human phenotypes related to Brooks-Wisniewski-Brown Syndrome:32 (show all 39)
UMLS symptoms related to Brooks-Wisniewski-Brown Syndrome:seizures, muscle weakness, muscle spasticity |
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MalaCards organs/tissues related to Brooks-Wisniewski-Brown Syndrome:41
Eye
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Articles related to Brooks-Wisniewski-Brown Syndrome:
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Search
GEO
for disease gene expression data for Brooks-Wisniewski-Brown Syndrome.
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