Hearing lossGene: RPS6KA3
Inheritance:Isolated cases;X-linked dominant
Created: 9 Feb 2016, 10:08 a.m.
Inheritance:X-linked dominant;Isolated cases
Created: 7 Feb 2016, 3:45 p.m.
Inheritance:X-linked dominant,Isolated cases
Created: 7 Feb 2016, 9:30 a.m.
Created: 7 Feb 2016, 9 a.m.
Mode of inheritance
#300844:Mental retardation, X-linked 19[Low birth weight (in some patients); Prominent forehead; Coarsening facial features with age; Broad nasal tip; Thick columellaFull lower lip; Dental crowding; KyphoscoliosisScoliosis; Long hands; Long feet; Reduced muscle toneReduced muscle bulk; HypotoniaMotor delaySpeech delayMental retardation, mild to moderateLearning disability, mild (in one female); Caused by mutation in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3,)]; #303600:Coffin-Lowry syndrome[Normal birth lengthShort stature; Normal birth weightWeight less than 3rd percentile; Microcephaly; Coarse faciesProminent browProminent chin; Prominent earsSensorineural hearing loss; Downslanting palpebral fissuresHypertelorismHeavy eyebrowsArched eyebrows; Broad noseThick alae nasiAnteverted naresThick nasal septum; Large, open mouthThick, everted lower lipNarrow palateHigh palate; HypodontiaMalocclusionWide-spaced teethLarge medial incisors; Mitral insufficiency; Pectus excavatumPectus carinatum; Short bifid sternum; Rectal prolapse; Inguinal hernia; Uterine prolapse; Delayed bone age; Thick calvariumHypoplastic sinusesHypoplastic mastoidsDelayed closure of anterior fontanel; ScoliosisKyphosisLumbar gibbus deformity; Coxa valgaNarrow iliac wings; Forearm fullnessExtensible joints; Large, soft handsTapering fingersTransverse palmar creasesHyperextensible fingersShort metacarpals' Drumstick' terminal phalanges; Flat feet; Loose skinCutis marmorataDependent acrocyanosisTransverse palmar creases; Small fingernailsHyperconvex fingernails; Straight, coarse hair; Mental retardationHypotoniaSeizuresVentricular dilatation]
RPS6KA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory