MRXS99F
MCID: MNT290
MIFTS: 25
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Mental Retardation, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:
Characteristics:OMIM:57
Miscellaneous:
highly variable phenotype mutations occur de novo
Inheritance:
x-linked dominant HPO:32
mental retardation, x-linked 99, syndromic, female-restricted:
Onset and clinical course phenotypic variability Inheritance x-linked dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Mental diseases |
UniProtKB/Swiss-Prot
:
75
Mental retardation, X-linked 99, syndromic, female-restricted: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning, associated with impairments in adaptive behavior and manifested during the developmental period. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant.
MalaCards based summary : Mental Retardation, X-Linked 99, Syndromic, Female-Restricted, also known as mrxs99f, is related to x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability. An important gene associated with Mental Retardation, X-Linked 99, Syndromic, Female-Restricted is USP9X (Ubiquitin Specific Peptidase 9 X-Linked). Affiliated tissues include brain, heart and thyroid, and related phenotypes are low-set ears and intellectual disability OMIM : 57 Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016). (300968) |
Diseases related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300968Human phenotypes related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:32 (show top 50) (show all 56)
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MalaCards organs/tissues related to Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:41
Brain,
Heart,
Thyroid,
Breast
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ClinVar genetic disease variations for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted:6 (show all 18)
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Search
GEO
for disease gene expression data for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted.
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