Mental Retardation, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)

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Disease Ontology 12 DOID:0112025 OMIM® 57 300968 OMIM Phenotypic Series 57 PS309530 MeSH 44 D038901

Orphanet 58 ORPHA480880 MedGen 41 C4225416 CN235381 SNOMED-CT via HPO 68 103276001 108369006 111266001 122480009 123526007 128306009 128602000 128613002 13649004 14447001 15188001 15253005 157265008 16026008 162294008 18910001 193570009 203534009 203541003 204043002 204508009 204712000 204731006 204949001 205091006 21558008 22066006 224958001 225570000 228156007 228158008 229721007 230145002 237836003 246545002 246799009 246800008 246802000 246803005 247053007 247578003 248568003 249311009 249321001 249729002 249768009 253251006 253366007 267036007 268290005 271607001 271825005 27272007 278849000 27911000 29164008 298203008 299032009 29966009 311897005 312894000 313307000 343087000 363346000 38101003 397868007 398197009 400003000 405752007 415692008 418143002 422775003 43064006 440471007 441787004 441798003 44593008 45939007 48334007 52522001 52781008 53226007 54711002 57190000 57809008 61152003 62415009 63567004 64217002 70142008 78164000 78441005 82649003 83330001 84757009 85898001 87979003 91138005 91175000 95515009 95828007 more

UniProtKB/Swiss-Prot : ⁷² 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, is also known as 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 thyroid, brain and eye, and related phenotypes are global developmental delay and intellectual disability, moderate

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has material basis in heterozygous mutation in USP9X on chromosome Xp11.4.

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) (Updated 05-Apr-2021)

Clinical features from OMIM®:

300968 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 99, Syndromic, Female-Restricted

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